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Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I.

• Ghada M H Abdel-Salam, Mohamed S. Abdel-Hamid, Mahmoud Y. Issa, Ahmed Magdy, Ahmed El-Kotoury, Khalda Said Amr
• American journal of medical genetics. Part A
• 2012

Mutations in the RNU4ATAC gene cause microcephalic osteodysplastic primordial dwarfism type I. It encodes U4atac, a small nuclear RNA that is a component of the minor spliceosome. Six distinct… (More)

Analysis of the gene coding for steroidogenic factor 1 (SF1, NR5A1) in a cohort of 50 Egyptian patients with 46,XY disorders of sex development.

• S. F. Tantawy, Inas M. Mazen, +15 authors Birgit Koehler
• European journal of endocrinology
• 2014

OBJECTIVE Steroidogenic factor 1 (SF1, NR5A1) is a key transcriptional regulator of genes involved in the hypothalamic-pituitary-gonadal axis. Recently, SF1 mutations were found to be a frequent… (More)

Registry of ocular anomalies among patients with genetic disorders attending the clinical genetics department at the National Research Center in Egypt.

• Ola M Eid, Sawsan Abdel Hady, Ahmed El-Kotoury, Khalda A Said, Karima Rafat, Hala T El-Bassyouni
• Ophthalmic genetics
• 2017

BACKGROUND The congenital abnormalities of eyes are a major cause of visual impairment throughout the world. Prevention of visual impairment due to congenital and infantile abnormalities of eyes is… (More)

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