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Mowat–Wilson syndrome: The clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C ; p.T791fsX816) (CROSBI ID 229387)

Prilog u časopisu | ostalo

Sasso, Antun ; Paucić-Kirincić, Ela ; Kamber-Makek, Silvija ; Sindičić, Nada ; Brajnović-Zaputović, Sanja ; Brajenović-Milić, Bojana Mowat–Wilson syndrome: The clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C ; p.T791fsX816) // Child's nervous system, 24 (2008), 5; 615-618. doi: 10.1007/s00381-007-0557-5

Podaci o odgovornosti

Sasso, Antun ; Paucić-Kirincić, Ela ; Kamber-Makek, Silvija ; Sindičić, Nada ; Brajnović-Zaputović, Sanja ; Brajenović-Milić, Bojana

engleski

Mowat–Wilson syndrome: The clinical report with the novel mutation in ZFHX1B (exon 8: c.2372del C ; p.T791fsX816)

Mowat-Wilson syndrome is a congenital syndrome caused by a defect of the transcriptional repressor ZFHX1B (SIP1) gene on the chromosome 2q22-q23. The genotype-phenotype analysis confirmed that ZFHX1B deletions and mutations result in a recognizable facial dysmorphism with a multiple congenital anomaly and mental retardation. This report is about one new patient from Croatia with the typical phenotype. Molecular genetic studies showed the novel mutation in ZFHX1B (exon 8: c.2372del C ; p.T791fsX816). This mutation has not been reported before. The literature is reviewed. Mowat-Wilson syndrome is a newly described congenital syndrome and should be considered in any individual with characteristic facial features and mental retardation in associations with congenital malformations.

Mowat–Wilson syndrome ; Congenital syndrome ; Hirschsprung disease ; Seizures ; Mental retardation ; ZFHX1B gene

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

nije evidentirano

Podaci o izdanju

24 (5)

2008.

615-618

objavljeno

0256-7040

10.1007/s00381-007-0557-5

Povezanost rada

nije evidentirano

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