First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction-Reference-Cited by-同舟云学术

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First case of compound heterozygous BHLHA9 variants in mesoaxial synostotic syndactyly with phalangeal reduction

Published:2020-01-07 Issue:4 Volume:182 Page:628-631
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Díaz‐González Francisca¹²,Parrón‐Pajares Manuel²³,Barcia‐Ramirez Ana⁴,Heath Karen E.¹²⁵^ORCID

Affiliation:

1. Institute of Medical & Molecular Genetics (INGEMM)Hospital Universitario La Paz, Universidad Autónoma de Madrid, IdiPAZ Madrid Spain

2. Skeletal dysplasia Multidisciplinary Unit (UMDE)Hospital Universitario La Paz Madrid Spain

3. Department of RadiologyHospital Universitario la Paz Madrid Spain

4. Department of PediatricsHospital Universitario Virgen de Valme Sevilla Spain

5. Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER, U753)Instituto Carlos III Madrid Spain

Funder

Ministerio de Ciencia, Innovación y Universidades

European Regional Development Fund

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61480

Reference11 articles.

1. Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia

2. A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family

3. A novel frameshift variant in BHLHA9 underlies mesoaxial synostotic syndactyly associated with postaxial polydactyly

4. Duplications ofBHLHA9are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

5. Mutations Affecting the BHLHA9 DNA-Binding Domain Cause MSSD, Mesoaxial Synostotic Syndactyly with Phalangeal Reduction, Malik-Percin Type

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic determinants of syndactyly: perspectives on pathogenesis and diagnosis;Orphanet Journal of Rare Diseases;2022-05-12

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