Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B-Reference-Cited by-同舟云学术

Heterozygous pathogenic variants in GLI1 are a common finding in isolated postaxial polydactyly A/B

Published:2019-11-06 Issue:1 Volume:41 Page:265-276
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Palencia‐Campos Adrián¹²,Martínez‐Fernández María‐Luisa³,Altunoglu Umut⁴,Soto‐Bielicka Patricia¹,Torres Antonio⁵,Marín Purificación⁶,Aller Elena²⁷,Şentürk Leyli⁴,Berköz Ömer⁸,Yıldıran Mehmet⁸,Kayserili Hülya⁴⁹,Gil‐Camarero Elena¹⁰,Colli‐Lista Gloria¹¹,Sanchís‐Calvo Amparo¹²,Carretero Alba¹,Guillén‐Navarro Encarna²¹³,López‐González Vanesa²¹³,Ballesta‐Martínez María²¹³,Rosell Jordi²¹⁴,Aglan Mona S.¹⁵,Temtamy Samia¹⁵,Otaify Ghada A.¹⁵,Cuevas‐Catalina Lourdes³,Torres‐Saavedra María‐Nieves³¹⁶,Nevado Julian¹⁷,Tenorio Jair²¹⁷,Lapunzina Pablo²¹⁷,Bermejo‐Sánchez Eva³¹⁸^ORCID,Ruiz‐Pérez Víctor L.¹²^ORCID,

Affiliation:

1. Instituto de Investigaciones Biomédicas “Alberto Sols”CSIC‐UAMMadrid Spain

2. CIBER de Enfermedades Raras (CIBERER)Institute of Health Carlos III Spain

3. ECEMC (Spanish Collaborative Study of Congenital Malformations), Research Unit on Congenital AnomaliesInstitute of Health Carlos IIIMadrid Spain

4. Medical Genetics Department, Istanbul Medical FacultyIstanbul University Istanbul Turkey

5. Paediatric UnitHospital San Juan de La Cruz Úbeda Spain

6. Dysmorphology and Neonatology ServiceHospital Universitario y Politécnico La Fe Valencia Spain

7. Genetic UnitHospital La Fe Valencia Spain

8. Department of Reconstructive and aesthetic Surgery, Istanbul Medical FacultyIstanbul University Istanbul Turkey

9. Medical Genetics DepartmentKoç University School of Medicine Istanbul Turkey

10. Paediatric UnitHospital Comarcal Laredo Spain

11. Paediatric UnitHospiten Estepona Estepona Spain

12. Paediatric UnitHospital Universitario Doctor Peset Valencia Spain

13. Genetic Medicine Unit, Paediatric UnitHospital Clínico Universitario Virgen de la Arrixaca, IMIB‐Arrixaca Murcia Spain

14. Genetic UnitHospital Son Espases Palma de Mallorca Spain

15. Department of Clinical Genetics, Human Genetics and Genome Research Division, Centre of Excellence of Human GeneticsNational Research Centre Cairo Egypt

16. CS Federica MontsenyUnidad Asistencial Sureste Madrid Spain

17. Institute of Medical and Molecular Genetics (INGEMM)‐IdiPAZHospital Universitario La Paz‐UAM Madrid Spain

18. Institute of Rare Diseases Research (IIER)Institute of Health Carlos III Madrid Spain

Funder

Ministerio de Economía y Competitividad

Instituto de Salud Carlos III

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.23921

Reference36 articles.

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3. Clinical and molecular analysis in families with autosomal recessive osteogenesis imperfecta identifies mutations in five genes and suggests genotype-phenotype correlations

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5. Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease

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