Zobrazeno 1 - 10
of 66
pro vyhledávání: '"Shawl scrotum"'
Akademický článek
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Publikováno v:
CHRISMED Journal of Health and Research, Vol 2, Iss 4, Pp 356-359 (2015)
Aarskog–Scott syndrome is an X-linked inherited disease characterized by short stature, facial abnormalities, skeletal, and genital anomalies. Although ophthalmic, dental, and cardiac defects are rarely seen. The present case report is of a 10-year
Externí odkaz:
https://doaj.org/article/8070c74638664242a11e3a33b99ab729
Akademický článek
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Autor:
Valentina Gatta, Silvia Carinci, Ivana Antonucci, Gabriele Lisi, Elisena Morizio, Stefano Tumini, Melissa Alfonsi, Giuseppe Calabrese, Chiara Palka, Liborio Stuppia, Pierluigi Lelli Chiesa
Publikováno v:
Cytogenetic and genome research. 158(3)
VACTERL association is defined by the occurrence of congenital malformations: vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, radial and renal dysplasia, and limb defects. No genetic alterations ha
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74d90f74077b56f06aa99ed8ed847bf7
https://pubmed.ncbi.nlm.nih.gov/31315107
https://pubmed.ncbi.nlm.nih.gov/31315107
Publikováno v:
CHRISMED Journal of Health and Research, Vol 2, Iss 4, Pp 356-359 (2015)
Aarskog–Scott syndrome is an X-linked inherited disease characterized by short stature, facial abnormalities, skeletal, and genital anomalies. Although ophthalmic, dental, and cardiac defects are rarely seen. The present case report is of a 10-year
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50e6f664db7d4e6c472d90e40c44a898
http://www.cjhr.org/article.asp?issn=2348-3334
http://www.cjhr.org/article.asp?issn=2348-3334
Autor:
Ferid Krupic, A Bajraktarevic, Goran Todosijevic, Djana Firdus Tiric, Elma Sarajlic, Andrea Pahor Kurilic, Dragica Abduzaimovic, Mithat Mujic, Fuad Husic, M Miokovic, S Putica, B. Djukic, Alisa Abduzaimovic, Samra Ljubovic, Kustric Amer, Sajra Uzicanin
Publikováno v:
Posters.
Introduction Scott Aarskog syndrome is an X-linked disorder characterised by short stature, hypertelorism, shawl scrotum in boys and brachydactyly. Syndrome is a genetic abnormality and the condition cannot be cured by optimal way. Aims The aim of th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b4193aa1fbf615e0473901370469c8bf
https://doi.org/10.1136/archdischild-2017-313273.370
https://doi.org/10.1136/archdischild-2017-313273.370
Autor:
Mohamed A. Baky Fahmy
Publikováno v:
Congenital Anomalies of the Penis ISBN: 9783319433097
Normal penoscrotal configuration, with the penis overriding the scrotum with its characteristic skin rugae stoping at the base of the penis without creeping and with a preserved angle had a paramount impaction in the psychic satisfaction of a child,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f1ac79aeb328e8592649387e371cf5b1
https://doi.org/10.1007/978-3-319-43310-3_15
https://doi.org/10.1007/978-3-319-43310-3_15
Autor:
Behzat Özkan, Erhan Pariltay, Esra Ataman, Filiz Hazan, Korcan Demir, Erhan Ozbek, Ozdal Etlik
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 29
Aarskog-Scott syndrome (ASS) is a rare X-linked recessive genetic disorder caused by FGD1 mutations. FGD1 regulates the actin cytoskeleton and regulates cell growth and differentiation by activating the c-Jun N-terminal kinase signaling cascade. ASS
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::86ee17b019cc6072e3da6540834627c4
https://doi.org/10.1515/jpem-2015-0482
https://doi.org/10.1515/jpem-2015-0482
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
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Autor:
Margaret Harr, Dong Li, Elizabeth J. Bhoj, Hakon Hakonarson, Tiancheng Wang, Cecilia Kim, Haijun Qiu, Jodi D. Hoffman, Elaine H. Zackai, Yan Zhao, Lifeng Tian
Publikováno v:
American journal of medical genetics. Part A. (11)
Teebi hypertelorism syndrome is a rare autosomal dominant disorder that has eluded a molecular etiology since first described in 1987. Here we report on two unrelated families with a Teebi hypertelorism-like syndrome and Teebi hypertelorism phenotype
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9ef6eecb6e39a0d77385f8a8fa62ef9f
https://pubmed.ncbi.nlm.nih.gov/26111080
https://pubmed.ncbi.nlm.nih.gov/26111080