XY sex reversal, pontocerebellar hypoplasia and intellectual disability: Confirmation of a new syndrome

American Journal of Medical Genetics, Part A

Volumn 161, Issue 7, 2013, Pages 1714-1717

  Siriwardena, Komudi ^a   Al Maawali, Almundher ^a   Guerin, Andrea ^a   Blaser, Susan ^a   Chitayat, David ^a,b  

^a HOSPITAL FOR SICK CHILDREN   (Canada)

^b MOUNT SINAI HOSPITAL   (Canada)

Author keywords

Cerebellar atrophy; Intellectual disability; Pontocerebellar hypoplasia; Sex reversal; XY gonadal dysgenesis

Indexed keywords

FOLLITROPIN; RANITIDINE;

ARTICLE; BODY DYSMORPHIC DISORDER; CASE REPORT; CEREBELLUM HYPOPLASIA; CHROMOSOME DUPLICATION; CONVERGENT STRABISMUS; DEVELOPMENTAL STAGE; DEVELOPMENTAL, AGE AND GROWTH PARAMETERS; FEEDING DISORDER; FEMALE; GASTROESOPHAGEAL REFLUX; GONADAL DYSGENESIS; HEAD MOVEMENT; HISTOPATHOLOGY; HORMONE BLOOD LEVEL; HUMAN; HUMAN TISSUE; IMAGE ANALYSIS; INTELLECTUAL IMPAIRMENT; MALE; MICROARRAY ANALYSIS; MUSCLE HYPOTONIA; NOSE FEEDING; NUCLEAR MAGNETIC RESONANCE IMAGING; PHYSICAL EXAMINATION; PONTOCEREBELLAR HYPOPLASIA; PRIORITY JOURNAL; TENDON REFLEX; TREMOR;

ADOLESCENT; CHILD; FEMALE; GONADAL DYSGENESIS, 46,XY; HUMANS; INTELLECTUAL DISABILITY; MALE; OLIVOPONTOCEREBELLAR ATROPHIES; PREGNANCY; SYNDROME;

EID: 84879460464     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.35945     Document Type: Article

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