A large, ten‐generation family with autosomal dominant preaxial polydactyly/triphalangeal thumb: Historical, clinical, genealogical, and molecular studies-Reference-Cited by-同舟云学术

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

Published:2022-10-29 Issue:1 Volume:191 Page:100-107
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:American J of Med Genetics Pt A

Author:

Álvarez Luis Francisco González¹,Tenorio‐Castaño Jair²³⁴^ORCID,Poletta Fernando A.⁵⁶⁷,Santos‐Simarro Fernando²³⁴,Arias Pedro²³,Gallego Natalia²³⁴,Orioli Iêda Maria⁵⁶⁷^ORCID,Mundlos Stefan⁸⁹,Castilla Eduardo E.⁵⁶⁷,Martínez‐Glez Víctor²³⁴,Martínez‐Frías María Luisa¹⁰,Ruiz‐Pérez Víctor L.²⁴¹¹,Nevado Julián²³⁴,Lapunzina Pablo²³⁴^ORCID

Affiliation:

1. Centro de Salud Area 6 Madrid Spain

2. CIBERER, Centro de Investigación Biomédica en Red de Enfermedades Raras Madrid Spain

3. INGEMM‐Idipaz, Institute of Medical and Molecular Genetics Madrid Spain

4. ITHACA, European Reference Network Brussels Belgium

5. ECLAMC at CEMIC (Center for Medical Education and Clinical Research) and CONICET (National Council for Scientific and Technical Investigation) Buenos Aires Argentina

6. ECLAMC (Latin American Collaborative Study of Congenital Malformations) at INAGEMP (National Institute of Population Medical Genetics) Rio de Janeiro Brazil

7. Department of Genetics Institute of Biology, Federal University of Rio de Janeiro Rio de Janeiro Brazil

8. Institute of Medical and Human Genetics Charité Universitätsmedizin Berlin Germany

9. Max Planck Institute for Molecular Genetics Berlin Germany

10. ECEMC, Estudio Colaborativo Español de Malformaciones Congénitas and CIAC, ISCIII Madrid Spain

11. Instituto de Investigaciones Biomédicas Alberto Sols, IIB‐UAM Madrid Spain

Funder

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62994

Reference26 articles.

1. Identification of two novel mutations in Shh long-range regulator associated with familial pre-axial polydactyly

2. Zone of Polarizing Activity Regulatory Sequence Mutations/Duplications with Preaxial Polydactyly and Longitudinal Preaxial Ray Deficiency in the Phenotype: A Review of Human Cases, Animal Models, and Insights Regarding the Pathogenesis

3. A novel mutation in theSHHlong-range regulator (ZRS) is associated with preaxial polydactyly, triphalangeal thumb, and severe radial ray deficiency

4. Polydactyly: A genetic study in South America;Castilla E.;American Journal of Human Genetics,1973

5. Preaxial polydactyly/triphalangeal thumb is associated with changed transcription factor-binding affinity in a family with a novel point mutation in the long-range cis-regulatory element ZRS

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