Výsledky vyhledávání - "Nadia Al-Sakati"

Combined TSC1 and LMX1B mutations in a single patient

Autor: Ola Khalifa, Nadia Al-Sakati, Zuhair N. Al-Hassnan, Khalid Al-Mane, Ameera Balobaid

Publikováno v: Clinical Dysmorphology. 23:47-51

Tuberous sclerosis complex (TSC) and nail-patella syndrome (NPS) are autosomal dominant pleiotropic disorders with full penetrance that can both involve kidneys. TSC1 and NPS genes are located on chromosome 9q3. In a large family with the two disorde

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9df670c53d6076110c8b6261613176c0
https://doi.org/10.1097/mcd.0000000000000025

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Dyggve–Melchior–Clausen syndrome: novel splice mutation with atlanto-axial subluxation

Autor: Mohammed Al-Owain, Nadia Al-Sakati, Alain Verloes, Faiqa Imtiaz, Khalid Al-Manea, Ola Khalifa

Publikováno v: European Journal of Pediatrics. 170:121-126

Dyggve–Melchior–Clausen (DMC) syndrome is a rare autosomal recessive disorder characterized by the association of a progressive spondyloepimetaphyseal dysplasia and mental retardation ranging from mild to severe. The disorder results from mutatio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0884dbb8ba95eeade14ec307e0fd3aa
https://doi.org/10.1007/s00431-010-1298-0

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