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Article

Identification of 11p14.1-p15.3 deletion probably associated with short stature, relative macrocephaly, and delayed closure of the fontanelles.

American journal of medical genetics. Part A - 1 Jan 2017

Dateki Sumito, Watanabe Satoshi, Kinoshita Fumiko, Yoshiura Koh-Ichiro, Moriuchi Hiroyuki

Abstract excerpt

We herein report a de novo hemizygous 9.2-Mb interstitial deletion of chromosome 11p14.1-15.3 in a 3-year-old Japanese girl with short stature, relative macrocephaly, and delayed closure of cranial fontanelles and sutures. She did not show either any motor or mental development delay. This deletion involves 25 genes including NELL1. The loss of the Nell1 function leads to skeletal defects in the cranial vault and...

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Source

Identifiers

PMID: 27662520
DOI: 10.1002/ajmg.a.37978

Genes

NELL1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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