A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families

European Journal of Medical Genetics

Volumn 55, Issue 4, 2012, Pages 256-264

  Shalev, Stavit A ^a,b   Spiegel, Ronen ^a,b   Borochowitz, Zvi U ^b,c  

^a HAEMEK MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^c BNAI ZION MEDICAL CENTER   (Israel)

Author keywords

Autosomal recessive; Brachydactyly; Disproportionate short stature

Indexed keywords

ADOLESCENT; ADULT; ARAB; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BODY HEIGHT; BONE MALFORMATION; BRACHYDACTYLY; CHILD; CLINICAL ARTICLE; CLINODACTYLY; DISPROPORTIONATE SHORT STATURE; FACE MALFORMATION; FEMALE; FEMUR MALFORMATION; GAIT DISORDER; GROWTH RETARDATION; HUMAN; HYPOTRICHOSIS; INFANT; JAW MALFORMATION; MALE; MICROTIA; NOSE MALFORMATION; PEDIGREE ANALYSIS; PHENOTYPE; PITCH; POSTNATAL GROWTH; PRESCHOOL CHILD; SCHOOL CHILD; SECOND TRIMESTER PREGNANCY; SHORT STATURE;

ADOLESCENT; ADULT; ARABS; BRACHYDACTYLY; CHILD; CHILD, PRESCHOOL; CONSANGUINITY; DWARFISM; FEMALE; GENES, RECESSIVE; HAND DEFORMITIES, CONGENITAL; HUMANS; HYPOTRICHOSIS; INFANT; MALE; PEDIGREE; PHENOTYPE; SYNDROME;

EID: 84860360209     PISSN: 17697212     EISSN: 18780849     Source Type: Journal    
DOI: 10.1016/j.ejmg.2012.02.011     Document Type: Article

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