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A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre‐axial polydactyly

Clinical genetics, 2019-04, Vol.95 (4), p.540-541

2019

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Polydactyly of the Hand

Journal of the American Academy of Orthopaedic Surgeons, 2018-02, Vol.26 (3), p.75-82

2018

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PRKACA‐related, atrial defects‐polydactyly‐multiple congenital malformation syndrome in an Indian patient

American journal of medical genetics. Part A, 2024-07, Vol.194 (7), p.e63566-n/a

2024

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FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice

Journal of bone and mineral research, 2019-02, Vol.34 (2), p.375-386

2019

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Beemer–Langer syndrome is a ciliopathy due to biallelic mutations in IFT122

American journal of medical genetics. Part A, 2017-05, Vol.173 (5), p.1186-1189

2017

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Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes

American journal of medical genetics. Part A, 2021-09, Vol.185 (9), p.2719-2738

2021

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Long-Term Clinical and Radiographic Follow-Up of Preaxial Polydactyly Reconstruction

The Journal of hand surgery (American ed.), 2019-03, Vol.44 (3), p.244.e1-244.e6

2019

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Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short‐rib polydactyly type I, Saldino–Noonan type

Clinical genetics, 2017-08, Vol.92 (2), p.158-165

2017

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Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

American journal of human genetics, 2020-11, Vol.107 (5), p.977-988

2020

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Reconstruction of Wassel IV-D radial polydactyly with a boot-shaped neurovascular island flap: A Consecutive series of 91 thumbs

Journal of plastic, reconstructive & aesthetic surgery, 2020-10, Vol.73 (10), p.1801-1805

2020

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Polydactyly: phenotypes, genetics and classification

Clinical genetics, 2014-03, Vol.85 (3), p.203-212

Malik, S.

2014

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A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.100-107

2023

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Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome

Prenatal diagnosis, 2024-08, Vol.44 (9), p.1105-1110

2024

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Affinity-optimizing enhancer variants disrupt development

Nature (London), 2024-02, Vol.626 (7997), p.151-159

2024

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Preaxial polydactyly of the foot in an adult patient diagnosed by X-ray after a trauma

Radiology case reports, 2023-03, Vol.18 (3), p.1376-1379

2023

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A novel EZH2 gene variant in a case of Weaver syndrome with postaxial polydactyly

American journal of medical genetics. Part A, 2021-07, Vol.185 (7), p.2234-2237

2021

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Modified Wassel-Flatt Type III Radial Polydactyly: Subtypes and Their Outcomes

The Journal of hand surgery (American ed.), 2024-01, Vol.49 (1), p.60.e1-60.e8

2024

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Polydactyly a review and update of a common congenital hand difference

Current opinion in pediatrics, 2020-02, Vol.32 (1), p.120-124

2020

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Resection and reconstruction for radial polydactyly Type IV-D in 206 cases: a retrospective clinical analysis

BMC musculoskeletal disorders, 2022-02, Vol.23 (1), p.167-167, Article 167

2022

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EP17.16: Case report: short rib polydactyly syndrome – type 2 (Majewski syndrome)

Ultrasound in obstetrics & gynecology, 2019-10, Vol.54 (S1), p.338-338

2019

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Update of surgical treatment of polydactyly

Current opinion in pediatrics, 2023-02, Vol.35 (1), p.124-130

2023

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Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A

Genomics (San Diego, Calif.), 2020-07, Vol.112 (4), p.2729-2733

2020

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GLI3‐related polydactyly: a review

Clinical genetics, 2017-11, Vol.92 (5), p.457-466

2017

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Genetics of human Bardet-Biedl syndrome, an updates

Clinical genetics, 2016-07, Vol.90 (1), p.3-15

2016

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A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre‐axial polydactyly

Polydactyly of the Hand

PRKACA‐related, atrial defects‐polydactyly‐multiple congenital malformation syndrome in an Indian patient

FAM92A Underlies Nonsyndromic Postaxial Polydactyly in Humans and an Abnormal Limb and Digit Skeletal Phenotype in Mice

Beemer–Langer syndrome is a ciliopathy due to biallelic mutations in IFT122

Comprehensive In Vivo Interrogation Reveals Phenotypic Impact of Human Enhancer Variants

Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypes

Long-Term Clinical and Radiographic Follow-Up of Preaxial Polydactyly Reconstruction

Mutations in DYNC2H1, the cytoplasmic dynein 2, heavy chain 1 motor protein gene, cause short‐rib polydactyly type I, Saldino–Noonan type

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

Reconstruction of Wassel IV-D radial polydactyly with a boot-shaped neurovascular island flap: A Consecutive series of 91 thumbs

Polydactyly: phenotypes, genetics and classification

A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies

Phenotypic and genotypic analysis of 11 fetal cases with Bardet-Biedl syndrome

Affinity-optimizing enhancer variants disrupt development

Preaxial polydactyly of the foot in an adult patient diagnosed by X-ray after a trauma

A novel EZH2 gene variant in a case of Weaver syndrome with postaxial polydactyly

Modified Wassel-Flatt Type III Radial Polydactyly: Subtypes and Their Outcomes

Polydactyly a review and update of a common congenital hand difference

Resection and reconstruction for radial polydactyly Type IV-D in 206 cases: a retrospective clinical analysis

EP17.16: Case report: short rib polydactyly syndrome – type 2 (Majewski syndrome)

Update of surgical treatment of polydactyly

Identification of a novel biallelic missense variant in the KIAA0825 underlies postaxial polydactyly type A

GLI3‐related polydactyly: a review

Genetics of human Bardet-Biedl syndrome, an updates

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