Associated Papers
Deciphering the digenic architecture of congenital heart disease using trio exome sequencing data.
Kars ME et al.
American Journal of Human Genetics, 2025
Clinical and molecular analysis of Guangxi patients with Kabuki syndrome and KMT2D mutations.
Yi S et al.
Heliyon, 2023
37810849 (PubMed )
Supplement: mmc4.xlsx › Variants_of_P_or_LP
Comprehensive screening shows that mutations in the known syndromic genes are rare in infants presenting with hyperinsulinaemic hypoglycaemia.
Laver TW et al.
Clinical Endocrinology, 2018
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