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 chondrodysplasia--pseudohermaphrodism 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.