Hyperinsulinism in an individual with an EP300 variant of

Kabuki Syndrome 1 disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Frontiers Syndromic forms of congenital hyperinsulinism

Proteasomal degradation of the histone acetyl transferase p300 contributes to beta-cell injury in a diabetes environment

BET-Family Bromodomains Can Recognize Diacetylated Sequences from Transcription Factors Using a Conserved Mechanism

39th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2018 Annual Meeting - Boycott - 2019 - American Journal of Medical Genetics Part A - Wiley Online Library

Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation, Italian Journal of Pediatrics

Sarah E. Sheppard's research works The Children's Hospital of Philadelphia, PA (CHOP) and other places

Otopalatodigital Syndrome, Type Ii disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Picture of hands. No abnormalities noted.

PDF) Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation

Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation, Italian Journal of Pediatrics

Proteasomal degradation of the histone acetyl transferase p300 contributes to beta-cell injury in a diabetes environment

PDF) Neonatal hyperinsulinemic hypoglycemia: case report of kabuki syndrome due to a novel KMT2D splicing-site mutation

Hyperinsulinism in an individual with an EP300 variant of Rubinstein‐Taybi syndrome - Wild - 2021 - American Journal of Medical Genetics Part A - Wiley Online Library