Noelia Baz-Redón Laura Soler-Colomer Mónica Fernández-Cancio Sara Benito-Sanz Marta Garrido Teresa Moliné María Clemente Núria Camats-Tarruella Diego Yeste
10.3389/fendo.2022.957969
Front Endocrinol (Lausanne)
2022 Oct 11;13:957969.
46,xy different sexual development hhat case report minigene studies syndromic dsd
CC BY
https://pubmed.ncbi.nlm.nih.gov/36303863/
Gonadal Dysgenesis Microcephaly / complications Microcephaly / genetics
Gonadal Dysgenesis Microcephaly / complications Microcephaly / genetics Case Reports Research Support, Non-U.S. Gov't Acyltransferases / genetics Hedgehog Proteins / genetics Hedgehog Proteins / metabolism Humans Sexual Development Thumb Hedgehog Proteins HHAT protein, human Acyltransferases
PMC9592858
36303863
Novel variant in HHAT as a cause of different sex development with partial gonadal dysgenesis associated with microcephaly, eye defects, and distal phalangeal hypoplasia of both thumbs: Case report
2022