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
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
Palmitoylation of Hedgehog proteins by Hedgehog acyltransferase: roles in signalling and disease.
Resh MD
Open Biology, 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
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