Wolf-Hirschhorn Syndrome: Clinical and Genetic Data from a First Case Diagnosed in Central Africa

Wolf-Hirschhorn syndrome (WHS) is a multiple congenital anomaly-intellectual disability syndrome caused by a deletion involving chromosome 4p16.3. We report clinical and genetic findings of the first WHS patient diagnosed in central Africa. This boy who presented with cleft palate, microcephaly, sev...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Pediatr Genet
Prif Awduron: Mbuyi-Musanzayi, Sébastien, Lumaka, Aimé, Kasole, Toni Lubala, Ilunga, Erick Kasamba, Asani, Bienvenu Yogolelo, Tshilobo, Prosper Lukusa, Muenze, Prosper Kalenga, Reychler, Hervé, Katombe, François Tshilombo, Devriendt, Koenraad
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Georg Thieme Verlag KG 2017
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC5548528/
https://ncbi.nlm.nih.gov/pubmed/28794913
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1055/s-0037-1599194
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