Associated Papers
Four New Patients of HHAT -Related Multiple Congenital Anomalies Syndrome (Nivelon-Nivelon-Mabille Syndrome) and a Comprehensive Literature Review.
Arı ABD et al.
American Journal of Medical Genetics. Part A, 2025
Diverse genetic causes of amenorrhea in an ethnically homogeneous cohort and an evolving approach to diagnosis.
Bakhshalizadeh S et al.
Molecular and Cellular Endocrinology, 2024
Muscle spasms as presenting feature of Nivelon-Nivelon-Mabile syndrome.
Saini N et al.
American Journal of Medical Genetics. Part A, 2023
Monogenic Forms of DSD: An Update.
McElreavey K et al.
Hormone Research in Paediatrics, 2023
A Homozygous Missense Variant in Hedgehog Acyltransferase (HHAT) Gene Associated with 46,XY Gonadal Dysgenesis.
Mazen I et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2022
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.
Baz-Redón N et al.
Frontiers in Endocrinology, 2022
Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome.
Pande S et al.
American Journal of Medical Genetics. Part A, 2021
Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia.
Abdel-Salam GMH et al.
American Journal of Medical Genetics. Part A, 2019
Anomalies in human sex determination provide unique insights into the complex genetic interactions of early gonad development.
Bashamboo A et al.
Clinical Genetics, 2017
The role of next generation sequencing in understanding male and female sexual development: clinical implications.
Bashamboo A et al.
Expert Review of Endocrinology & Metabolism, 2016
Human sex-determination and disorders of sex-development (DSD).
Bashamboo A et al.
Seminars in Cell & Developmental Biology, 2015
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.
Callier P et al.
Plos Genetics, 2014