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

Am J Med Genet A. 2023 Feb;191(2):636-639. doi: 10.1002/ajmg.a.63048. Epub 2022 Nov 19.

Authors

Kyoko Fukahori¹, Kaori Yamoto², Hirotomo Saitsu², Tsutomu Ogata^{2

3

4}, Keisuke Nagasaki¹

Affiliations

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.

PMID: 36401583
DOI: 10.1002/ajmg.a.63048

No abstract available

Publication types

Review
Case Reports
Letter
Research Support, Non-U.S. Gov't

MeSH terms

Acyltransferases
Humans
Membrane Proteins / genetics
Microphthalmos* / complications
Microphthalmos* / diagnosis
Microphthalmos* / genetics
Waardenburg Syndrome*

Substances

Acyltransferases
PORCN protein, human
Membrane Proteins

Supplementary concepts

Anophthalmos with limb anomalies