Lethal syndrome of skeletal dysplasia and progressive central nervous system degeneration

American Journal of Medical Genetics

Volumn 77, Issue 1, 1998, Pages 63-71

  Khosravi, Mahvash ^a   Weaver, David D ^a   Bull, Marilyn J ^a   Lachman, Ralph ^b   Rimoin, David L ^c  

^a INDIANA UNIVERSITY   (United States)

^b UCLA MEDICAL CENTER   (United States)

^c CEDARS SINAI MEDICAL CENTER   (United States)

Author keywords

Autosomal recessive; Birth defects; Bone dysplasia; Central nervous system degeneration; Seizures

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BIRTH DEFECT; BONE DYSPLASIA; BONE RADIOGRAPHY; BRAIN DEGENERATION; CASE REPORT; DISEASE ASSOCIATION; FEMALE; HUMAN; LETHAL MUTANT; MALE; NEWBORN; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; BONE AND BONES; BONE DISEASES, DEVELOPMENTAL; CENTRAL NERVOUS SYSTEM; FATAL OUTCOME; FEMALE; GENES, RECESSIVE; HUMANS; INFANT; INFANT, NEWBORN; MALE; NERVE DEGENERATION; SYNDROME;

EID: 0032574662     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19980428)77:1<63::AID-AJMG14>3.0.CO;2-M     Document Type: Article

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