Abdel-Salam GMH et al.Biallelic novel missense HHAT variant causes syndromic microcephaly and cerebellar-vermis hypoplasia. Am J Med Genet A. 2019;179(6):1053-1057. PMID: 30912300.
Callier P et al.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.PLoS Genet. 2014;10(5):e1004340. PMID: 24784881.
Chen MH et al.Palmitoylation is required for the production of a soluble multimeric Hedgehog protein complex and long-range signaling in vertebrates.Genes Dev. 2004;18(6):641-59. PMID: 15075292.
Dennis JF et al.Mutations in Hedgehog acyltransferase (Hhat) perturb Hedgehog signaling, resulting in severe acrania-holoprosencephaly-agnathia craniofacial defects.PLoS Genet. 2012;8(10):e1002927. PMID: 23055936.
Nivelon A et al.New autosomal recessive chondrodysplasiapseudohermaphrodism syndrome. Clin Dysmorphol. 1992;1(4):221-7. PMID: 1342874.
Pande S et al.Hedgehog acyl-transferase-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome. Am J Med Genet A. 2021. PMID: 33749989.
Thauvin-Robinet C et al.Unique survival in chrondrodysplasia-hermaphrodism syndrome.Am J Med Genet A. 2005;132A(3):335-7. PMID: 15578577.
