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Article

Familial Microdeletion of 17q24.3 Upstream of SOX 9 Is Associated With Isolated Pierre Robin Sequence Due to Position Effect

26 Mar 2013

Abstract excerpt

Pierre Robin sequence (PRS) is a malformation pattern characterized by the core triad of retrognathia, glossoptosis, and cleft palate that causes difficulty in glossopharyngeal-laryngeal-vagal functions. The etiology of PRS remains largely unknown; previous reports have suggested that it is caused by intrauterine constriction or external conditions such as oligohydramnios, breech position, or abnormal uterine...

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PMID: 23532965
DOI: 10.1002/ajmg.a.35847

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Related research

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Research trail→

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Familial Microdeletion of 17q24.3 Upstream of SOX 9 Is Associated With Isolated Pierre Robin Sequence Due to Position EffectPMID 23532965Read ↗

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Variability in a three-generation family with Pierre Robin sequence, acampomelic campomelic dysplasia, and intellectual disability due to a novel ∼1 Mb deletion upstream of SOX9, and including KCNJ2 and KCNJ16.Semantic proximity Read ↗

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Delineation of Clinical Manifestations of the Inherited Xq24 Microdeletion Segregating with sXCI in Mothers: Two Novel Cases with Distinct Phenotypes Ranging from UBE2A Deficiency Syndrome to Recurrent Pregnancy Loss.Semantic proximity Read ↗

Identification of novel craniofacial regulatory domains located far upstream of SOX9 and disrupted in Pierre Robin sequence.Semantic proximity Read ↗

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