Autosomal recessive Oliver-McFarlane syndrome: Retinitis pigmentosa, short stature (GH deficiency), trichomegaly, and hair anomalies or CPD syndrome (chorioretinopathy-pituitary dysfunction)

American Journal of Medical Genetics

Volumn 138 A, Issue 3, 2005, Pages 268-271

  Haimi, Motti ^a   Gershoni Baruch, Ruth ^a,b  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b RAMBAM MEDICAL CENTER   (Israel)

Author keywords

Autosomal recessive inheritance; Chorioretinopathy; Developmental delay; Hair anomalies; Hypopituitarism; Retinitis pigmentosa; Short stature; Trichomegaly

Indexed keywords

GROWTH HORMONE; TESTOSTERONE; THYROTROPIN;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHORIORETINOPATHY; CLINICAL FEATURE; COGNITION; CONSANGUINEOUS MARRIAGE; FEMALE; GROWTH DISORDER; GROWTH HORMONE DEFICIENCY; HAIR DISEASE; HORMONAL THERAPY; HUMAN; HYPOPHYSIS DISEASE; MALE; MICROPENIS; MOTOR DEVELOPMENT; OLIVER MCFARLANE SYNDROME; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; SCHOOL CHILD; SHORT STATURE; TRICHOMEGALY;

ADOLESCENT; BODY HEIGHT; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; DWARFISM, PITUITARY; EYEBROWS; EYELASHES; FEMALE; GENES, RECESSIVE; HAIR; HUMANS; MALE; RETINITIS PIGMENTOSA; SYNDROME;

EID: 25644438532     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30953     Document Type: Article

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