Inherited Chondrodysplasia Punctata Due to a Deletion of the Terminal Short Arm of an X Chromosome

New England Journal of Medicine

Volumn 311, Issue 16, 1984, Pages 1010-1015

  Curry, Cynthia J R ^a,b,c,d,e   Magenis, R Ellen ^a,b,c,d,e   Brown, Michael ^a,b,c,d,e   Lanman, Joseph T ^a,b,c,d,e   Tsai, Joseph ^a,b,c,d,e   O'lague, Patricia ^a,b,c,d,e   Goodfellow, Peter ^a,b,c,d,e   Mohandas, T ^a,b,c,d,e   Bergner, E Ann ^a,b,c,d,e   Shapiro, Larry T ^a,b,c,d,e  

^a Valley Children's Hospital Fresno County   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^d Lincoln Inn Fields ^*  (United States)

^e UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

AUDITORY SYSTEM; BIOCHEMISTRY; BONE; CARTILAGE; CASE REPORT; CENTRAL NERVOUS SYSTEM; CHONDRODYSPLASIA PUNCTATA; CHROMOSOME DELETION X; CHROMOSOME XP; CONGENITAL DISORDER; DIAGNOSIS; EPIPHYSIS; EPIPHYSIS STIPPLING; ETIOLOGY; FERTILITY; HEARING IMPAIRMENT; HEREDITY; HETEROZYGOTE; HISTOLOGY; HUMAN; HYPERACTIVITY; HYPOTRICHOSIS; ICHTHYOSIS VULGARIS; MENTAL DEFICIENCY; MENTAL RETARDATION MALFORMATION SYNDROME; MICROCEPHALY; MICRORHINIA; SCANTY HAIR; SHORT STATURE; X CHROMOSOME;

EID: 0021180649     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJM198410183111603     Document Type: Article

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