Výsledky vyhledávání - "Khalid Elshimy"

Vaginal Atresia, Left Unicornuate Unicollis Uterus, Left Pelvic Ectopic Single Kidney with Right Inguinal Hernia Containing Ovary in a 14 y Old Female: A Rare MRKHS Variant

Autor: Wael Alaa Eldeen, Khalid Elshimy, Akram Elbatarny, Amel Hashsih, Nagy Eldessouky

Publikováno v: Journal of Advances in Medicine and Medical Research. 35:25-31

Introduction: Vaginal atresia is a component of Mayer–Rokitansky–Küster–Hauser syndrome (MRKHS), which includes variable Mullerian duct abnormalities with normal secondary sexual characteristics. Associated renal anomalies are present in about

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::027b8f2153eb27b1f11f289e4396cbf7
https://doi.org/10.9734/jammr/2023/v35i135041

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Two new patients with focal dermal hypoplasia: A novel PORCN variant and insights on the diagnostic considerations

Autor: Rasha Moheb Elhossini, Mohamed S. Abdel‐Hamid, Engy Ashaat, Ghada A. Otaify, Heba Dawoud, Khalid Elshimy, Mona El Ruby, Mona Aglan

Publikováno v: Congenital Anomalies. 62:68-77

Mutations in the PORCN gene cause an X-linked dominant condition; focal dermal hypoplasia (FDH), characterized by atrophic skin, pigmented skin lesions in addition to several ocular and skeletal malformations. FDH is rare with around 275 cases report

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c72eb8d907aef88493b24b1f6e954aa
https://doi.org/10.1111/cga.12457

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