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Article

3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient.

Italian journal of pediatrics - 21 Mar 2013

Meazza Cristina, Lausch Ekkehard, Pagani Sara, Bozzola Elena, Calcaterra Valeria, Superti-Furga Andrea, Silengo Margherita, Bozzola Mauro

Abstract excerpt

3-M syndrome is a rare autosomal recessive disorder that causes short stature, unusual facial features and skeletal abnormalities. Mutations in the CUL7, OBSL1 and CCDC8 genes could be responsible for 3-M syndrome.Here we describe the growth and evolution of dismorphic features of an Italian boy with 3-M syndrome and growth hormone deficiency (GHD) from birth until adulthood. He was born full term with a very low...

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Source

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Identifiers

PMID: 23517720
DOI: 10.1186/1824-7288-39-21
PMCID: PMC3608257

Genes

SDS
CUL7
CCDC8
OBSL1

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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