A new autosomal recessive syndrome of characteristic facies, joint contractures, skeletal abnormalities, and normal development: second report with further clinical delineation.
Gupta
A
A
Department of Medical Genetics, St George's Hospital Medical School, Cranmer Terrace, London, UK.
Hall
C M
CM
Ransley
Y F
YF
Murday
V A
VA
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000473:pathology; D025063:Chromosome Disorders; D005145:Face / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007596:Joints / Q000002:abnormalities; D011859:Radiography; D013577:Syndrome