Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: Evidence for an ancestral founder mutation and locus refinement

American Journal of Medical Genetics

Volumn 85, Issue 1, 1999, Pages 48-52

  Diaz, G A ^a   Gelb, B D ^a   Ali, F ^b   Sakati, N ^b   Sanjad, S ^b   Meyer, B F ^b   Kambouris, M ^b,c  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

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

^c YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Genotype; Hypoparathyroidism; Linkage; Phenotype; Skeletal dysplasia

Indexed keywords

DNA;

ALLELE; ARTICLE; BONE DYSPLASIA; CLINICAL ARTICLE; GENE; GENOTYPE; HAPLOTYPE; HUMAN; HYPOPARATHYROIDISM; KENNY CAFFEY SYNDROME; MUTATION; OSTEOSCLEROSIS; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; SANJAD SAKATI SYNDROME;

ABNORMALITIES, MULTIPLE; ALLELES; CHILD; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; DEVELOPMENTAL DISABILITIES; FOUNDER EFFECT; GENES, RECESSIVE; GENOTYPE; HAPLOTYPES; HUMANS; HYPOPARATHYROIDISM; MENTAL RETARDATION; MUTATION; OSTEOCHONDRODYSPLASIAS; PHENOTYPE; SEIZURES; SYNDROME;

EID: 0033516715     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19990702)85:1<48::AID-AJMG9>3.0.CO;2-Y     Document Type: Article

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