Non‐syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X‐linked recessive manner-Reference-Cited by-同舟云学术

Non‐syndromic anophthalmia/microphthalmia can be caused by a PORCN variant inherited in X‐linked recessive manner

Published:2020-10-27 Issue:1 Volume:185 Page:250-255
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Wawrocka Anna¹^ORCID,Walczak‐Sztulpa Joanna¹,Pawlak Marta²,Gotz‐Wieckowska Anna²,Krawczynski Maciej R.¹³

Affiliation:

1. Department of Medical Genetics Poznan University of Medical Sciences Poznan Poland

2. Department of Ophthalmology Poznan University of Medical Sciences Poznan Poland

3. Centers for Medical Genetics GENESIS Poznan Poland

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61938

Reference26 articles.

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4. Phenotypic and molecular characterization of focal dermal hypoplasia in 18 individuals

5. Bostwick B. Van denVeyver I. B. &Sutton V. R.(1993).Focal dermal hypoplasia. InM. P.Adam H. H.Ardinger R. A.Pagon S. E.Wallace L. J. H.Bean K.Stephens &A.Amemiya(Eds.).Seattle (WA).

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