Hedgehog acyl‐transferase‐related multiple congenital anomalies: Report of an additional family and delineation of the syndrome
Author:
Affiliation:
1. Department of Medical Genetics Kasturba Medical College, Manipal, Manipal Academy of Higher Education Manipal India
2. Mediscan Diagnostic Centre Mangalore India
Funder
Indian Council of Medical Research
National Institutes of Health
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.62186
Reference28 articles.
1. Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar‐vermis hypoplasia
2. Hedgehog Signaling and Embryonic Craniofacial Disorders
3. OMIM.org: Online Mendelian Inheritance in Man (OMIM®), an online catalog of human genes and genetic disorders
4. Novel Familial Variant of the Desert Hedgehog Gene: Clinical Findings in Two Sisters with 46,XY Gonadal Dysgenesis or 46,XX Karyotype and Literature Review
5. Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling
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