Open AccessMutations in LAMB2 Are Associated With Albuminuria and Optic Nerve Hypoplasia With Hypopituitarism
Author(s) -
Mona Tahoun,
Jennifer C. Chandler,
Emma Ashton,
Scott Haston,
Athia Hannan,
Ji Soo Kim,
Felipe D’Arco,
Detlef Böckenhauer,
Glenn Anderson,
MeeiHua Lin,
Salah Marzouk,
Marwa H. Saied,
Jeffrey H. Miner,
Mehul Dattani,
Aoife Waters
Publication year - 2019
Publication title -
the journal of clinical endocrinology and metabolism
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.206
H-Index - 353
eISSN - 1945-7197
pISSN - 0021-972X
DOI - 10.1210/clinem/dgz216
Subject(s) - medicine , glomerular basement membrane , optic nerve , hypoplasia , pathology , nephrotic syndrome , endocrinology , kidney , anatomy , glomerulonephritis
Mutations in LAMB2, encoding the basement membrane protein, laminin β2, are associated with an autosomal recessive disorder characterized by congenital nephrotic syndrome, ocular abnormalities, and neurodevelopmental delay (Pierson syndrome).
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