Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature.
about
Loss-of-function mutations in WDR73 are responsible for microcephaly and steroid-resistant nephrotic syndrome: Galloway-Mowat syndrome.Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73.Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome.Infantile nephrotic syndrome with microcephaly and global developmental delay: the Galloway Mowat Syndrome.Extending the mutation spectrum for Galloway-Mowat syndrome to include homozygous missense mutations in the WDR73 gene.Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings.
P2860
Galloway-Mowat syndrome: an early-onset progressive encephalopathy with intractable epilepsy associated to renal impairment. Two novel cases and review of literature.
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article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 18 January 2010
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
Galloway-Mowat syndrome: an ea ...... ases and review of literature.
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Galloway-Mowat syndrome: an ea ...... ases and review of literature.
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label
Galloway-Mowat syndrome: an ea ...... ases and review of literature.
@en
Galloway-Mowat syndrome: an ea ...... ases and review of literature.
@nl
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Galloway-Mowat syndrome: an ea ...... ases and review of literature.
@en
Galloway-Mowat syndrome: an ea ...... ases and review of literature.
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P2093
P1476
Galloway-Mowat syndrome: an ea ...... ases and review of literature.
@en
P2093
Alberto Bettinelli
Carlo Minetti
Federico Zara
Giovanna Giudizioso
Marianna Pezzella
Nune S Yeghiazaryan
Pasquale Striano
Pierangelo Veggiotti
P304
P356
10.1016/J.SEIZURE.2009.12.002
P577
2010-01-18T00:00:00Z