Zobrazeno 1 - 10
of 214
pro vyhledávání: '"Johanson–Blizzard syndrome"'
Publikováno v:
Vojnosanitetski Pregled, Vol 80, Iss 10, Pp 885-889 (2023)
Introduction. Johanson-Blizzard syndrome (JBS) is a very rare genetic disorder caused by a mutation of the ubiquitin protein ligase E3 component N-recognin 1 (UBR1) gene. Clinical diagnosis is based on the pathognomonic combination of congenital exoc
Externí odkaz:
https://doaj.org/article/4d97886265944e0e9a6fd53b40915788
Autor:
Isabelle Scheers, Silvia Berardis
Publikováno v:
Frontiers in Pediatrics, Vol 10 (2022)
Congenital exocrine pancreatic insufficiency is a rare condition. In a vast majority of patients, exocrine dysfunction occurs as part of a multisystemic disease, the most prevalent being cystic fibrosis and Shwachman-Bodian-Diamond syndrome. Recent f
Externí odkaz:
https://doaj.org/article/a44c62417159405c8e07b5e611fe4fbd
Publikováno v:
Indian Journal of Paediatric Dermatology, Vol 22, Iss 4, Pp 370-373 (2021)
Johanson–Blizzard syndrome (JBS) is a rare autosomal recessive disease which was first described in 1971 by Johanson and Blizzard in three unrelated girls. Less than 100 cases have been reported to date. It is characterized by exocrine pancreatic i
Externí odkaz:
https://doaj.org/article/9ecf22a75f7c49178d4c368bcec54e74
Akademický článek
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Publikováno v:
Journal of Audiology and Otology. 26:160-165
Johanson Blizzard syndrome (JBS) is an autosomal recessive disorder that shows a multi-faceted impact on almost all body functions, including speech and hearing. This case presentation describes the comprehensive audiological and rehabilitative profi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::21d5b911580499925ca6c3dcd19dc5ac
https://doi.org/10.7874/jao.2021.00444
https://doi.org/10.7874/jao.2021.00444
Publikováno v:
Cureus
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive hereditary disorder characterized by multi-system involvement and facial dysmorphic features. One of the most common symptoms in JBS patients is bilateral severe to profound sensorineural
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3503eb524fcef163165162d64c4ccd00
https://doi.org/10.7759/cureus.19264
https://doi.org/10.7759/cureus.19264
Publikováno v:
Voprosy dietologii. 10:62-65
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e5b34fa1aba980660f22e02c6a51c8d4
https://doi.org/10.20953/2224-5448-2020-2-62-65
https://doi.org/10.20953/2224-5448-2020-2-62-65
Autor:
Isabelle, Scheers, Silvia, Berardis
Publikováno v:
Frontiers in pediatrics, Vol. 10, p. 909925 (2022)
Congenital exocrine pancreatic insufficiency is a rare condition. In a vast majority of patients, exocrine dysfunction occurs as part of a multisystemic disease, the most prevalent being cystic fibrosis and Shwachman-Bodian-Diamond syndrome. Recent f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bd017fdc45432bafe4d1d6138f22dee
https://hdl.handle.net/2078.1/264655
https://hdl.handle.net/2078.1/264655
Publikováno v:
Journal of Indian Academy of Oral Medicine and Radiology, Vol 22, Iss 4, Pp 225-228 (2010)
Several of the anatomic malformations are difficult to diagnose. A group of population has characteristic anatomic changes but even in this group the diagnosis may not be considered, if one or more of the major features are present. The Johanson-Bliz
Externí odkaz:
https://doaj.org/article/f13d0641991e4f319d8356715104dced
Publikováno v:
Indian Journal of Paediatric Dermatology, Vol 22, Iss 4, Pp 370-373 (2021)
Johanson–Blizzard syndrome (JBS) is a rare autosomal recessive disease which was first described in 1971 by Johanson and Blizzard in three unrelated girls. Less than 100 cases have been reported to date. It is characterized by exocrine pancreatic i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be6df073ab13121a7a3c7b18fefb469e
https://doi.org/10.4103/ijpd.ijpd_172_20
https://doi.org/10.4103/ijpd.ijpd_172_20