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Article

KBG syndrome in two patients from Egypt.

American journal of medical genetics. Part A - 1 Jun 2020

Sayed Inas S M, Abdel-Hamid Mohamed S, Abdel-Salam Ghada M H

Abstract excerpt

KBG syndrome is an intellectual disability (ID) associated with multiple congenital anomalies in which the macrodontia could be the clue for the diagnosis. It is caused either by heterozygous variant in ANKRD11 gene or 16q24.3 microdeletions that involve the ANKRD11 gene. Here, we report on two unrelated male patients who presented with ID, short stature, webbing of neck, and cryptorchidism. Noonan syndrome was...

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PMID: 32222090
DOI: 10.1002/ajmg.a.61552

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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