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Article

Biallelic loss of function of the promyelocytic leukaemia zinc finger (PLZF) gene causes severe skeletal defects and genital hypoplasia

8 Jul 2008

Abstract excerpt

BACKGROUND: Deletions of 11q23 are associated with mental retardation, craniofacial dysmorphism, microcephaly and short stature. We present a patient with similar clinical findings, in addition to absence of the thumbs, hypoplasia of the radii and ulnae, additional vertebrae and ribs, retarded bone age and genital hypoplasia. METHODS: Genomic DNA from the patient was screened for chromosomal imbalances by...

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Identifiers

PMID: 18611983
DOI: 10.1136/jmg.2008.059451

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