Aplasia cutis congenita, high myopia, and cone-rod dysfunction in two sibs: A new autosomal recessive disorder

American Journal of Medical Genetics

Volumn 61, Issue 1, 1996, Pages 42-44

  Gershoni Baruch, Ruth ^a,b   Leibo, Rina ^b  

^a RAMBAM MEDICAL CENTER   (Israel)

^b TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

Author keywords

aplasia cutis congenita; autosomal recessive inheritance; cone rod dysfunction; high myopia

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHILD; ELECTRORETINOGRAM; FEMALE; HIGH MYOPIA; HUMAN; MALE; NYSTAGMUS; PRIORITY JOURNAL; RETINA DISEASE; SIBLING; SKIN APLASIA;

ALOPECIA AREATA; CHILD, PRESCHOOL; CONES (RETINA); CONSANGUINITY; ECTODERMAL DYSPLASIA; FEMALE; GENES, RECESSIVE; HUMANS; INFANT; MALE; NUCLEAR FAMILY; NYSTAGMUS, PATHOLOGIC; RETINAL DISEASES; RODS (RETINA);

RAPHIA FRATER;

EID: 0030050123     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19960102)61:1<42::AID-AJMG8>3.0.CO;2-Z     Document Type: Article

References (12)

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