A NEW FINDING IN A PATIENT WITH MOWAT WILSON SYNDROME: PERIPUPILLARY ATROPHY AND GINGIVAL HYPERTROPHY

Kiraz, A.; Aldemir, O.; Karabulut, Y.; TURAN, CÜNEYT; DÜNDAR, MUNİS

A NEW FINDING IN A PATIENT WITH MOWAT WILSON SYNDROME: PERIPUPILLARY ATROPHY AND GINGIVAL HYPERTROPHY

Kiraz A., Aldemir O., Karabulut Y., TURAN C., DÜNDAR M.

GENETIC COUNSELING, cilt.24, sa.1, ss.61-68, 2013 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 24 Sayı: 1
Basım Tarihi: 2013
Dergi Adı: GENETIC COUNSELING
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.61-68
Anahtar Kelimeler: Hirschsprung disease, Intellectual disability, Single gene disorder, ZEB2 gene mutation
Erciyes Üniversitesi Adresli: Evet

Özet

A new finding in a patient with Mowat Wilson syndrome: peripupillary atrophy and gingival hypertrophy: Mowat-Wilson syndrome is a genetic disease characterized by typical facial features, Hirschsprung disease and multiple congenital abnormalities. MWS is a single gene disorder. One of the most specific clinical signs in MWS is the distinctive face.