Ritscher-Schinzel (cranio-cerebello-cardiac, 3C) syndrome: Report of four new cases with renal involvement

American Journal of Medical Genetics, Part A

Volumn 155, Issue 6, 2011, Pages 1393-1397

  Seidahmed, Mohammed Zein ^a   Alkuraya, Fowzan S ^b,c,d   Shaheed, Meeralebbae ^a   Al Zahrani, Mohammed ^a   Al Manea, Waleed ^a   Mansour, Fayzeh ^a   Mustafa, Tareq ^a   Farid, Gehan ^a   Salih, Mustafa A ^e  

^a SECURITY FORCES HOSPITAL   (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^d ALFAISAL UNIVERSITY   (Saudi Arabia)

^e KING SAUD UNIVERSITY   (Saudi Arabia)

Author keywords

Autosomal recessive; Cerebellar hypoplasia; Dandy Walker malformation; Ritscher Schinzel syndrome; Solitary kidney

Indexed keywords

ALOPECIA; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CAMPTODACTYLY; CASE REPORT; CHILD; CONGENITAL MALFORMATION; CRANIOFACIAL MALFORMATION; DEVELOPMENTAL DISORDER; HUMAN; HYDRONEPHROSIS; KARYOTYPE 46,XY; KIDNEY DISEASE; MALE; MUSCLE HYPOTONIA; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RITSCHER SCHINZEL SYNDROME; SAUDI ARABIA;

ABNORMALITIES, MULTIPLE; CRANIOFACIAL ABNORMALITIES; DANDY-WALKER SYNDROME; FEMALE; HEART SEPTAL DEFECTS, ATRIAL; HUMANS; INFANT; KIDNEY; MALE; PEDIGREE; SAUDI ARABIA;

EID: 79956210259     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33966     Document Type: Article

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