Brachydactyly mental retardation syndrome in differential diagnosis of pseudopseudohypoparathyroidism

Journal of Pediatric Endocrinology and Metabolism

Volumn 26, Issue 7-8, 2013, Pages 793-795

  Hacihamdioǎlu, Bülent ^a   Arslan, Mutluay ^a   Sari, Erkan ^a   Kurtçu, Kemal ^a   Yesilkaya, Ediz ^b  

^a GULHANE SCHOOL OF MEDICINE   (Turkey)

^b Burc Genetic Diagnosis Laboratory   (Turkey)

Author keywords

2q37 deletion; Albright hereditary osteodystrophy; Brachydactyly mental retardation syndrome; Pseudopseudohypoparathyroidism

Indexed keywords

ESTROGEN; GROWTH HORMONE; SOMATOMEDIN C;

ARTICLE; BODY MASS; BRACHYDACTYLY; BRACHYDACTYLY MENTAL RETARDATION SYNDROME; CASE REPORT; CHILD; CHROMOSOME ABERRATION; DIFFERENTIAL DIAGNOSIS; ESTROGEN BLOOD LEVEL; FACE DYSMORPHIA; FEMALE; GROWTH HORMONE BLOOD LEVEL; HEAD CIRCUMFERENCE; HIGH ARCHED PALATE; HUMAN; MENTAL DEFICIENCY; METATARSAL BONE; MOSAICISM; OBESITY; PHYSICAL EXAMINATION; PROTEIN BLOOD LEVEL; PSEUDOPSEUDOHYPOPARATHYROIDISM; PSYCHOMOTOR RETARDATION; SCHOOL CHILD; SHORT STATURE; VALGUS DEFORMITY;

BRACHYDACTYLY; CHILD; DIAGNOSIS, DIFFERENTIAL; FEMALE; HUMANS; INTELLECTUAL DISABILITY; PSEUDOPSEUDOHYPOPARATHYROIDISM;

EID: 84881509465     PISSN: 0334018X     EISSN: 21910251     Source Type: Journal    
DOI: 10.1515/jpem-2012-0375     Document Type: Article

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