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Article

Advanced bone age in a girl with Wiedemann-Steiner syndrome and an exonic deletion in KMT2A (MLL).

American journal of medical genetics. Part A - 1 Aug 2014

Mendelsohn Bryce A, Pronold Melissa, Long Roger, Smaoui Nizar, Slavotinek Anne M

Abstract excerpt

Recognition of the gene implicated in a Mendelian disorder subsequently leads to an expansion of potential phenotypes associated with mutations in that gene as patients with features beyond the core phenotype are identified by sequencing. Here, we present a young girl with developmental delay, short stature despite a markedly advanced bone age, hypertrichosis without elbow hair, renal anomalies, and dysmorphic...

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Identifiers

PMID: 24818805
DOI: 10.1002/ajmg.a.36590

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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