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Article

Growth hormone deficiency, anorectal agenesis, and brachycamptodactyly: a phenotype overlapping Stratton-Parker syndrome.

American journal of medical genetics. Part A - 1 Jul 2004

Spadoni Emanuela, Castelnovi Claudia, Maraschio Paola, Stacul Elisabetta, Beluffi Giampiero, Bozzola Mauro, Danesino Cesare

Abstract excerpt

Stratton and Parker [1989] described a 17-month-old boy with the previously unreported combination of growth hormone (GH) deficiency, Wormian bones, mild developmental delay, brachycamptodactyly, heart defects, kidney hypoplasia, imperforate anus, bilateral cryptorchidism, and facial anomalies. A...

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Identifiers

PMID: 15211658
DOI: 10.1002/ajmg.a.30037

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-15211658-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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