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Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

Journal of medical genetics, 2022-10, Vol.59 (10), p.957-964

2022

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Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Nature genetics, 2011-03, Vol.43 (3), p.197-203

2011

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Tomographic Study of the Malformation Complex in Correlation With the Genotype in Patients With Robinow Syndrome: Review Article

JIM - high impact case reports, 2020, Vol.8, p.2324709620911771-2324709620911771

2020

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The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study

AIMS molecular science, 2021-03, Vol.8 (1), p.76-85

2021

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Progressive Deformity of the Lower Limbs in a Patient with KID (Keratitis-Ichthyosis-Deafness) Syndrome

Case reports in orthopedics, 2020, Vol.2020 (2020), p.1-5

2020

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Massive Axial and Appendicular Skeletal Deformities in Connection with Gorham-Stout Syndrome

Medicines (Basel, Switzerland), 2019-05, Vol.6 (2), p.54

2019

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A constellation of orthopaedic deformities in connection with cartilage oligomeric matrix protein mutation

African journal of paediatric surgery, 2019-01, Vol.16 (1), p.23-28

2019

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Lower limbs deformities in patients with McCune-Albright syndrome: Tomography and treatment

African journal of paediatric surgery, 2016-07, Vol.13 (3), p.125-130

2016

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Radiographic and Tomographic Study of the Cranial Bones in Children with the Idiopathic Type of West Syndrome

Pediatric reports, 2024-05, Vol.16 (2), p.410-419

2024

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Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome)

African journal of paediatric surgery, 2016-04, Vol.13 (2), p.88-94

2016

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Extended phenotypes in a boy and his mother with oto‐palato‐digital‐syndrome type II

Clinical case reports, 2015-09, Vol.3 (9), p.762-766

2015

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Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome

Clinical Medicine Insights: Arthritis and Musculoskeletal Disorders, 2013-01, Vol.2013 (2013), p.1-9

2013

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Analysis of a non‐lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons

Clinical genetics, 2023-10, Vol.104 (4), p.491-496

2023

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Turning the backbone into an ankylosed concrete-like structure: Case report

Medicine (Baltimore), 2018-04, Vol.97 (15), p.e0278-e0278

2018

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Spinal and pelvic corrections in a patient with spondylocostal dysplasia syndrome and hemimyelomeningocele

African journal of paediatric surgery, 2014-10, Vol.11 (4), p.341-346

2014

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Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia

Children (Basel), 2023-10, Vol.10 (10), p.1715

2023

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Meticulous and Early Understanding of Congenital Cranial Defects Can Save Lives

Children (Basel), 2023-07, Vol.10 (7), p.1240

2023

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Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia

Clinical rheumatology, 2020-02, Vol.39 (2), p.553-560

2020

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Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome

Calcified tissue international, 2021-11, Vol.109 (5), p.586-595

2021

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The constellation of skeletal deformities in a family with mixed types of mucopolysaccharidoses: Case report

Medicine (Baltimore), 2016-08, Vol.95 (32), p.e4561-e4561

2016

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The management of knee dislocation in a child with Larsen syndrome

Clinics (São Paulo, Brazil), 2011-01, Vol.66 (7), p.1295-1299

2011

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Fractures in connection with an atypical form of craniodiaphyseal dysplasia: case report of a boy and his mother

Clinics (São Paulo, Brazil), 2012-12, Vol.67 (12), p.1505-1509

2012

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Correction of the axial and appendicular deformities in a patient with Silver-Russel syndrome

African journal of paediatric surgery, 2015-01, Vol.12 (1), p.36-40

2015

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Bilateral and Symmetrical Anteromedial Bowing of the Lower Limbs in a Patient with Neurofibromatosis Type-I

Case reports in orthopedics, 2015-01, Vol.2015 (2015), p.1-4

2015

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Novel subtype of mucopolysaccharidosis caused by arylsulfatase K (ARSK) deficiency

Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

Tomographic Study of the Malformation Complex in Correlation With the Genotype in Patients With Robinow Syndrome: Review Article

The phenotypic spectrum in a patient with Glycine to Serine mutation in the COL2A1 gene: overview study

Progressive Deformity of the Lower Limbs in a Patient with KID (Keratitis-Ichthyosis-Deafness) Syndrome

Massive Axial and Appendicular Skeletal Deformities in Connection with Gorham-Stout Syndrome

A constellation of orthopaedic deformities in connection with cartilage oligomeric matrix protein mutation

Lower limbs deformities in patients with McCune-Albright syndrome: Tomography and treatment

Radiographic and Tomographic Study of the Cranial Bones in Children with the Idiopathic Type of West Syndrome

Corrections of diverse forms of lower limb deformities in patients with mucopolysaccharidosis type IVA (Morquio syndrome)

Extended phenotypes in a boy and his mother with oto‐palato‐digital‐syndrome type II

Musculo-Skeletal Abnormalities in Patients with Marfan Syndrome

Analysis of a non‐lethal biallelic frameshift mutation in ZMPSTE24 reveals utilization of alternative translation initiation codons

Turning the backbone into an ankylosed concrete-like structure: Case report

Spinal and pelvic corrections in a patient with spondylocostal dysplasia syndrome and hemimyelomeningocele

Cutaneous, Cranial, and Skeletal Defects in Children and Adults with Focal Dermal Hypoplasia

Meticulous and Early Understanding of Congenital Cranial Defects Can Save Lives

Skeletal phenotype/genotype in progressive pseudorheumatoid chondrodysplasia

Clinical Phenotype and Bone Biopsy Characteristics in a Child with Proteus Syndrome

The constellation of skeletal deformities in a family with mixed types of mucopolysaccharidoses: Case report

CDK10 Mutations in Humans and Mice Cause Severe Growth Retardation, Spine Malformations, and Developmental Delays

The management of knee dislocation in a child with Larsen syndrome

Fractures in connection with an atypical form of craniodiaphyseal dysplasia: case report of a boy and his mother

Correction of the axial and appendicular deformities in a patient with Silver-Russel syndrome

Bilateral and Symmetrical Anteromedial Bowing of the Lower Limbs in a Patient with Neurofibromatosis Type-I

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