Familial aplasia/hypoplasia of pelvis, femur, fibula, and ulna with abnormal digits in an inbred Pakistani Muslim family: A possible new autosomal recessive disorder with overlapping manifestations of the syndromes of fuhrmann, Al-Awadi, and Raas-Rothschild

American Journal of Medical Genetics

Volumn 70, Issue 2, 1997, Pages 107-113

  Kumar, D ^a,d   Duggan, M B ^c   Mueller, R F ^b   Karbani, G ^b  

^a SHEFFIELD CHILDREN S HOSPITAL   (United Kingdom)

^b ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^c Department of Pediatrics   (Uganda)

^d Centre for Human Genetics   (United Kingdom)

Author keywords

Al Awadi syndrome; Autosomal recessive; Consanguinity; FFU complex; Fuhrmann syndrome; Proximal focal femoral deficiency (PFFD); Raas Rothschild syndrome

Indexed keywords

APLASIA; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; CLINICAL FEATURE; CONSANGUINITY; FEMALE; FEMUR; FIBULA; FINGER MALFORMATION; HUMAN; HYPOPLASIA; MALE; PAKISTAN; PELVIS; PHENOTYPE; PRIORITY JOURNAL; SKELETON MALFORMATION; ULNA;

EID: 0030998043     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/(sici)1096-8628(19970516)70:2<107::aid-ajmg1>3.0.co;2-v     Document Type: Article

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