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...

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Publié dans:J Pediatr Genet
Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Georg Thieme Verlag KG 2017
Accès en ligne: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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