Clinical and genetic characterization of ten Egyptian patients with Wolf–Hirschhorn syndrome and review of literature

BACKGROUND: Wolf–Hirschhorn syndrome (WHS) (OMIM 194190) is a multiple congenital anomalies/intellectual disability syndrome. It is caused by partial loss of genetic material from the distal portion of the short arm of chromosome. METHODS: We studied the phenotype–genotype correlation. RESULTS: We p...

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Detalles Bibliográficos
Autores principales: Mekkawy, Mona K., Kamel, Alaa K., Thomas, Manal M., Ashaat, Engy A., Zaki, Maha S., Eid, Ola M., Ismail, Samira, Hammad, Saida A., Megahed, Hisham, ElAwady, Heba, Refaat, Khaled M., Hussien, Shymaa, Helmy, Nivine, Abd Allah, Sally G., Mohamed, Amal M., El Ruby, Mona O.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077161/
https://www.ncbi.nlm.nih.gov/pubmed/33217222
http://dx.doi.org/10.1002/mgg3.1546

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077161/
https://www.ncbi.nlm.nih.gov/pubmed/33217222
http://dx.doi.org/10.1002/mgg3.1546

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