<i>PORCN</i> ‐related microphthalmia with limb anomalies: Case report and literature review-Reference-Cited by-同舟云学术

PORCN ‐related microphthalmia with limb anomalies: Case report and literature review

Published:2022-11-19 Issue:2 Volume:191 Page:636-639
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:

Fukahori Kyoko¹,Yamoto Kaori²,Saitsu Hirotomo²,Ogata Tsutomu²³⁴^ORCID,Nagasaki Keisuke¹^ORCID

Affiliation:

1. Department of Pediatrics Niigata University Medical & Dental Hospital Niigata Japan

2. Department of Biochemistry Hamamatsu University School of Medicine Hamamatsu Japan

3. Department of Pediatrics Hamamatsu University School of Medicine Hamamatsu Japan

4. Department of Pediatrics Hamamatsu Medical Center Hamamatsu Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.63048

Reference11 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen‐receptor gene correlates with X chromosome inactivation;Allen R. C.;American Journal of Human Genetics,1992

2. Novel insights into PORCN mutations, associated phenotypes and pathophysiological aspects

3. A dyadic approach to the delineation of diagnostic entities in clinical genomics

4. Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia

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. A 12 Week Fetus with Anophthalmia, Limb Anomalies and Infratemporal Teratoma;International Journal of Women's Health;2024-01