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A case of deletion 14(q22.1-->q22.3) associated with anophthalmia and pituitary abnormalities.

An interstitial deletion of the region q22.1-->q22.3 of chromosome 14 is described in a child with bilateral anophthalmia, dysmorphic features including micrognathia, small tongue, and high arched palate, developmental and growth retardation, undescended testes with a micropenis, and hypothyroidi...

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Dettagli Bibliografici
Autori principali: Elliott, J, Maltby, E L, Reynolds, B
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1993
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016311/
https://ncbi.nlm.nih.gov/pubmed/7682620
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