Umm-Kulthum Ismail Umlai Basma Haris Khalid Hussain Puthen Veettil Jithesh
10.3389/fendo.2021.783235
Front Endocrinol (Lausanne)
2022 Feb 3;12:783235.
balanced translocation chromosomal duplication chromosome 4 horseshoe kidneys microcephaly rare diseases short stature speech delay
CC BY
https://pubmed.ncbi.nlm.nih.gov/35185781/
Language Development Disorders / genetics Microcephaly / genetics
Language Development Disorders / genetics Microcephaly / genetics Case Reports Research Support, Non-U.S. Gov't Chromosome Duplication / genetics Humans Male Phenotype Protein Serine-Threonine Kinases Retrospective Studies PLK4 protein, human Protein Serine-Threonine Kinases
PMC8851600
35185781
Case Report: Phenotype-Gene Correlation in a Case of Novel Tandem 4q Microduplication With Short Stature, Speech Delay and Microcephaly
2022