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Article

A novel 15bp micro-duplication in SF-1 gene showing diverse phenotypic spectrum in a Chinese family.

The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians - 1 Jan 2011

Li Hong, Choy Kwong Wai, Lei Yun-Ping, Wang Wei, Wang Hong-Yan, Chen Ying

Abstract excerpt

OBJECTIVE: To determine the genetic cause of sex reversal in a Chinese family. METHODS: Two sisters aged 21 and 20 years old were referred for primary amenorrhoea and poor secondary sexual development. They were subjected to clinical, endocrinologic and ultrasonographic investigation, and molecular analysis including cytogenetics, array CGH, SRY and SF-1 mutation screening. RESULTS: A novel 15bp micro-duplication...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 20350242
DOI: 10.3109/14767051003678184

Genes

SRY

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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