Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly

Chromosome 9p terminal deletion in nine Egyptian patients and narrowing of the critical region for trigonocephaly

Abstract Background This study aimed to delineate the clinical phenotype of patients with 9p deletions, pinpoint the chromosomal breakpoints, and identify the critical region for trigonocephaly, which is a frequent finding in 9p terminal deletion. Methods We investigated a cohort of nine patients wi...

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Autores principales: Amal M. Mohamed, Alaa K. Kamel, Maha M. Eid, Ola M. Eid, Mona Mekkawy, Shymaa H. Hussein, Maha S. Zaki, Samira Esmail, Hanan H. Afifi, Ghada Y. El‐Kamah, Ghada A. Otaify, Heba Ahmed El‐Awady, Aya Elaidy, Mahmoud Y. Essa, Mona El‐Ruby, Engy A. Ashaat, Saida A. Hammad, Inas Mazen, Ghada M. H. Abdel‐Salam, Mona Aglan, Samia Temtamy
Formato: article
Lenguaje:EN
Publicado: Wiley 2021
Materias:
9p deletion
ambiguous genitalia
autism
brain anomalies
trigonocephaly
Genetics
QH426-470
Acceso en línea:https://doaj.org/article/2bfe665e28c74ca3b3ab3b493e122b7b
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https://doaj.org/article/2bfe665e28c74ca3b3ab3b493e122b7b

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