Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome-Reference-Cited by-同舟云学术

Homozygous indel mutation in CDH11 as the probable cause of Elsahy-Waters syndrome

Published:2017-10-08 Issue:12 Volume:173 Page:3143-3152
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Taskiran Ekim Z.¹^ORCID,Karaosmanoglu Beren¹²,Koşukcu Can¹,Doğan Özlem A.³,Taylan-Şekeroğlu Hande⁴,Şimşek-Kiper Pelin Ö.³^ORCID,Utine Eda G.³,Boduroğlu Koray³,Alikaşifoğlu Mehmet¹

Affiliation:

1. Faculty of Medicine; Department of Medical Genetics; Hacettepe University; Ankara Turkey

2. Department of Stem Cell Sciences; Hacettepe University; Institute of Health Sciences; Ankara Turkey

3. Faculty of Medicine; Department of Pediatric Genetics; Hacettepe University; Ankara Turkey

4. Faculty of Medicine; Department of Ophthalmology; Hacettepe University; Ankara Turkey

Funder

Hacettepe University Turkey

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference30 articles.

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4. Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa;Bareil;Human Genetics,2001

5. Elsahy-Waters syndrome: Evidence for autosomal recessive inheritance;Castori;American Journal of Medical Genetics Part A,2010

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