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pro vyhledávání: '"multiple endocrinopathy"'
Autor:
Avinaash Maharaj, Demetria Theodorou, Indraneel (Indi) Banerjee, Louise A. Metherell, Rathi Prasad, Dean Wallace
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
Background: Loss of function mutations in SGPL1 are associated with Sphingosine-1-phosphate lyase insufficiency syndrome, comprising steroid resistant nephrotic syndrome, and primary adrenal insufficiency (PAI) in the majority of cases. SGPL1 encodes
Externí odkaz:
https://doaj.org/article/67e3de037d144841a33ef8cbcf0f167b
Publikováno v:
Indian Journal of Paediatric Dermatology, Vol 19, Iss 1, Pp 31-36 (2018)
Background: Job syndrome also known as hyper IgE syndrome (HIES) is primary immunodeficiency syndrome. Autosomal dominant variant caused by mutation in signal transducer and activator of transcription-3 gene is characterized by recurrent staphylococc
Externí odkaz:
https://doaj.org/article/69b3de96e0d44449952bc238cd28a699
Akademický článek
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Publikováno v:
Indian Journal of Paediatric Dermatology, Vol 19, Iss 1, Pp 31-36 (2018)
Background: Job syndrome also known as hyper IgE syndrome (HIES) is primary immunodeficiency syndrome. Autosomal dominant variant caused by mutation in signal transducer and activator of transcription-3 gene is characterized by recurrent staphylococc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a60ad40c4c781a6ef1f4424f6bfa31a
https://doi.org/10.4103/ijpd.ijpd_144_16
https://doi.org/10.4103/ijpd.ijpd_144_16