Zobrazeno 1 - 7 of 7 pro vyhledávání: '"Zeynep Esener"'
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A Rare Mosaic Karyotype of 45,X/46,X,psu idic(Y)(p11.32)/46,XY with SHOX Haploinsufficiency, External Male Genitalia, and Short Stature
Autor: Şengül Yüksel, Zeynep Esener, Selcen Korkmaz, Nihal Saltürk, Cemal Ekici, Ahmet Koc
Publikováno v: Sexual Development. 13:41-46
In this case study, we describe a 3-year-old boy who was referred to the Inonu University Hospital with short stature complaint. His height was 86 cm (-2.96 SDS), weight was 12 kg (-2.43 SDS), and head circumference was 46.5 cm (-2.34 SDS). Chromosom
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::8cfc39902738750739aa9c24c2501417
https://doi.org/10.1159/000495201
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2
Autosomal recessive cutis laxa: a novel mutation in the FBLN5 gene in a family
Autor: İbrahim Tekedereli, Ismail Kursad Gokce, Emine Demiral, Zeynep Esener, Ayşehan Akıncı, Emine Çamtosun
Publikováno v: Clinical Dysmorphology. 28:63-65
FBLN5-related cutis laxa (CL) is a rare syndrome that can be inherited in an autosomal dominant or recessive manner. Autosomal recessive cutis laxa (ARCL), type IA, has been reported to be more severe. The disease is characterized by microcephaly, sa
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4a0c52983b6474a80aea3d7025cad89
https://doi.org/10.1097/mcd.0000000000000258
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Plný text Recenzováno Digitální knihovna AV ČR
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