A new finding in a patient with Mowat Wilson syndrome: Peripupillary atrophy and gingival hypertrophy

Genetic Counseling

Volumn 24, Issue 1, 2013, Pages 61-68

  Kiraz, Aslihan ^a   Aldemir, O ^a   Karabulut, Y ^b   Turan, C ^b   Dundar, M ^b  

^a Maternity and Children Hospital ^*  (Turkey)

^b ERCIYES UNIVERSITY   (Turkey)

Author keywords

Hirschsprung disease; Intellectual disability; Single gene disorder; ZEB2 gene mutation

Indexed keywords

ARTICLE; ATROPHY; AUTOSOMAL DOMINANT DISORDER; BIOMETRY; CASE REPORT; CESAREAN SECTION; CHILD; COLON AGANGLIONOSIS; COLOSTOMY; CONSTIPATION; CRYPTORCHISM; EAR MALFORMATION; ENTEROCOLITIS; GINGIVA HYPERTROPHY; HEAD CIRCUMFERENCE; HEART MURMUR; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HUMAN TISSUE; HYDRONEPHROSIS; HYPERTELORISM; HYPOSPADIAS; IMMUNOHISTOCHEMISTRY; INTELLECTUAL IMPAIRMENT; MALE; MICROCEPHALY; MICROPENIS; MOWAT WILSON SYNDROME; MUSCLE HYPOTONIA; NOSE MALFORMATION; PERIPUPILLARY ATROPHY; PRESCHOOL CHILD; PULMONARY HYPERTENSION; PULMONARY VALVE STENOSIS; PUPIL DISEASE; STRABISMUS; TWO DIMENSIONAL ECHOCARDIOGRAPHY; VESICOURETERAL REFLUX;

ATROPHY; CHILD, PRESCHOOL; FACIES; GINGIVAL HYPERTROPHY; HIRSCHSPRUNG DISEASE; HUMANS; INTELLECTUAL DISABILITY; MALE; MICROCEPHALY; RETINA;

EID: 84876021185     PISSN: 10158146     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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