Paternal gonadal mosaicism of NIPBL mutation in a father of siblings with Cornelia de Lange syndrome

Prenatal Diagnosis

Volumn 26, Issue 11, 2006, Pages 1054-1057

  Niu, Dau Ming ^a,b   Huang, Jing Ying ^a,b   Li, Hsin Yang ^a,b   Liu, Kai Ming ^a,b   Wang, Shih Ting ^a   Chen, Yann Jang ^a,b   Udaka, Tom ^c   Izumi, Kosuke ^c   Kosaki, Kenjiro ^c  

^a TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^b NATIONAL YANG MING UNIVERSITY   (Taiwan)

^c KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

Author keywords

Cornelia de Lange Syndrome; Genetic counselling; Gonadal mosaicism; Nipped B like gene

Indexed keywords

ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL FEATURE; DE LANGE SYNDROME; DIAGNOSTIC IMAGING; FEMALE; FETUS; GENE; GENE MUTATION; GENETIC SCREENING; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; HUMAN CELL; MALE; NEWBORN; NIPPED B LIKE GENE; PRIORITY JOURNAL; SEX CHROMOSOME MOSAICISM; SIBLING;

DE LANGE SYNDROME; FATAL OUTCOME; FATHERS; FEMALE; GONADS; HUMANS; INFANT, NEWBORN; MALE; MOSAICISM; MUTATION, MISSENSE; PROTEINS; SEQUENCE ANALYSIS, DNA; SIBLINGS;

EID: 33751351635     PISSN: 01973851     EISSN: 10970223     Source Type: Journal    
DOI: 10.1002/pd.1554     Document Type: Article

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