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Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia

Journal of medical genetics, 2022-01, Vol.59 (1), p.28-38

2022

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Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

Genetics in medicine, 2018-06, Vol.20 (6), p.630-638

2018

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Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients

Genes, 2022-11, Vol.13 (11), p.2063

2022

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Infection and sudden lethal upper airway occlusion – An overview

Journal of forensic and legal medicine, 2023-07, Vol.97, p.102541-102541, Article 102541

2023

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Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

Genetics in medicine, 2018-01, Vol.20 (1), p.91-97

2018

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Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant

European journal of human genetics : EJHG, 2024-10, Vol.32 (10), p.1250-1256

2024

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Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects

European journal of endocrinology, 2024-07, Vol.191 (1), p.38-46

2024

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New pathogenic variant in DLX5 : New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly

Frontiers in genetics, 2023-04, Vol.14, p.1165780

2023

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Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

Orphanet journal of rare diseases, 2023-03, Vol.18 (1), p.56-56, Article 56

2023

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Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient

American journal of medical genetics. Part A, 2023-08, Vol.191 (8), p.2240-2244

2023

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Novel FGF9 variant contributes to multiple synostoses syndrome 3

American journal of medical genetics. Part A, 2022-07, Vol.188 (7), p.2162-2167

2022

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Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations

The journal of clinical endocrinology and metabolism, 2017-02, Vol.102 (2), p.460-469

2017

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Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1‐related

American journal of medical genetics. Part A, 2024-03, Vol.194 (3), p.e63469-n/a

2024

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Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases

Clinical genetics, 2023-07, Vol.104 (1), p.100-106

2023

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Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene

Scientific reports, 2018-09, Vol.8 (1), p.14292-12, Article 14292

2018

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IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy

The journal of clinical endocrinology and metabolism, 2018-02, Vol.103 (2), p.604-614

2018

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NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development

PloS one, 2014-01, Vol.9 (1), p.e83104-e83104

2014

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Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

American journal of human genetics, 2020-11, Vol.107 (5), p.989-999

2020

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Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis

The journal of clinical endocrinology and metabolism, 2015-08, Vol.100 (8), p.E1133-E1142

2015

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Delayed familial self-immolation: A rare memorial event

Legal medicine (Tokyo, Japan), 2021-05, Vol.50, p.101865-101865, Article 101865

2021

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Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations

Frontiers in endocrinology (Lausanne), 2022-08, Vol.13, p.965476-965476

2022

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Case report: A third variant in the 5' UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome

Frontiers in genetics, 2023-01, Vol.13, p.1089417

2023

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Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

American journal of human genetics, 2024-05, Vol.111 (5), p.996-996

2024

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ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions

European journal of medical genetics, 2024-04, Vol.68, p.104916-104916, Article 104916

2024

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Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants

European journal of medical genetics, 2021-05, Vol.64 (5), p.104198-104198, Article 104198

2021

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Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature

Clinical and Genetic Analysis of Multiple Osteochondromas in a Cohort of Argentine Patients

Infection and sudden lethal upper airway occlusion – An overview

Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

Two new patients with acromesomelic dysplasia, PRKG2 type—identification and characterization of the first missense variant

Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects

New pathogenic variant in DLX5 : New clues for a clinical spectrum from split-hand-foot malformation to fibular aplasia, tibial campomelia and oligosyndactyly

Lifetime impact of achondroplasia study in Europe (LIAISE): findings from a multinational observational study

Clinical and radiological heterogeneity for the rare FGFR3 variant, p.Ser344Cys, description of a third patient

Novel FGF9 variant contributes to multiple synostoses syndrome 3

Clinical characterization of patients with autosomal dominant short stature due to aggrecan mutations

Unexpected findings in cervical spine in spondylometaphyseal dysplasia Sutcliff type FN1‐related

Evolution of clinical and radiological presentations of spondyloepimetaphyseal dysplasia, RPL13‐related: Description of 11 further cases

Identification of a limb enhancer that is removed by pathogenic deletions downstream of the SHOX gene

IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy

NPPB and ACAN, two novel SHOX2 transcription targets implicated in skeletal development

Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2

Heterozygous NPR2 Mutations Cause Disproportionate Short Stature, Similar to Léri-Weill Dyschondrosteosis

Delayed familial self-immolation: A rare memorial event

Pain and health-related quality of life in patients with hypophosphatasemia with and without ALPL gene mutations

Case report: A third variant in the 5' UTR of TWIST1 creates a novel upstream translation initiation site in a child with Saethre-Chotzen syndrome

Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

ERN BOND: The key European network leveraging diagnosis, research, and treatment for rare bone conditions

Description of four patients with TRIP11 variants expand the clinical spectrum of odontochondroplasia (ODCD) and demonstrate the existence of common variants

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