Adams-Oliver syndrome in siblings with central nervous system findings, epilepsy, and developmental delay: Refining the features of a severe autosomal recessive variant

American Journal of Medical Genetics, Part A

Volumn 146, Issue 4, 2008, Pages 488-491

  McGoey, Robin R ^a,b   Lacassie, Yves ^a,b  

^a LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b CHILDREN S HOSPITAL   (United States)

Author keywords

Adams Oliver syndrome; Autosomal recessive; Central nervous system; Cutis aplasia; Epilepsy; Limb reduction defect

Indexed keywords

ADAMS OLIVER SYNDROME; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASE; CLINICAL FEATURE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EPILEPSY; FEMALE; GENETIC HETEROGENEITY; HUMAN; LIMB DEFECT; NEUROLOGIC DISEASE; NEWBORN; PRIORITY JOURNAL; SKIN APLASIA;

CENTRAL NERVOUS SYSTEM DISEASES; CHILD; CHROMOSOME ABERRATIONS; DEVELOPMENTAL DISABILITIES; EPILEPSY; FEMALE; GENES, RECESSIVE; HUMANS; INCIDENTAL FINDINGS; INFANT; LIMB DEFORMITIES, CONGENITAL; SIBLINGS; SYNDROME;

EID: 38849174482     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32163     Document Type: Article

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