Terminal chromosome 4q deletion syndrome in an infant with hearing impairment and moderate syndromic features: review of literature

BACKGROUND: Terminal deletions of chromosome 4q are associated with a broad spectrum of phenotypes including cardiac, craniofacial, digital, and cognitive impairment. The rarity of this syndrome renders genotype-phenotype correlation difficult, which is further complicated by the widely different ph...

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Enregistré dans:
Détails bibliographiques
Auteurs principaux: Vona, Barbara, Nanda, Indrajit, Neuner, Cordula, Schröder, Jörg, Kalscheuer, Vera M, Shehata-Dieler, Wafaa, Haaf, Thomas
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2014
Sujets:
Case Report
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4077152/
https://ncbi.nlm.nih.gov/pubmed/24962056
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-15-72
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