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Article

12q14 microdeletion syndrome: A family with short stature and Silver-Russell syndrome (SRS)-like phenotype and review of the literature.

European journal of medical genetics - 1 Aug 2018

Heldt Frederik, Wallaschek Hannah, Ripperger Tim, Morlot Susanne, Illig Thomas, Eggermann Thomas, Schlegelberger Brigitte, Scholz Caroline, Steinemann Doris

Abstract excerpt

We report here on the first family with short stature and Silver-Russell-like phenotype due to a microdeletion in 12q14.3. The Netchine-Harbison clinical scoring system was used for the clinical diagnosis of Silver-Russell syndrome (SRS). The three affected first-degree relatives (index patient, mother and brother) presented with prenatal and postnatal growth retardation, feeding difficulties, a prominent...

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 12

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29501611
DOI: 10.1016/j.ejmg.2018.02.010

Genes

HMGA2
GRIP1
HELB
IRAK3
LLPH
TMBIM4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026.

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