Early pontocerebellar hypoplasia with vanishing testes: A new syndrome?

American Journal of Medical Genetics, Part A

Volumn 155, Issue 4, 2011, Pages 667-672

  Anderson, Christopher ^a   Davies, Justin H ^b   Lamont, Lilias ^c   Foulds, Nicola ^b  

^a SALISBURY DISTRICT HOSPITAL   (United Kingdom)

^b UNIVERSITY HOSPITAL SOUTHAMPTON NHS FOUNDATION TRUST   (United Kingdom)

^c ST RICHARD S HOSPITAL   (United Kingdom)

Author keywords

46XY disorder of sex development; Gonadal regression; Pontocerebellar hypoplasia

Indexed keywords

AMLODIPINE; CHORIONIC GONADOTROPIN; DEXAMETHASONE; GONADORELIN;

ANAMNESIS; APNEA; ARTICLE; AUTOPSY; CASE REPORT; CEREBELLUM HYPOPLASIA; CONGENITAL MALFORMATION; COUGHING; DISEASE ASSOCIATION; DISEASE SEVERITY; ELECTROENCEPHALOGRAM; FEEDING DISORDER; GONADORELIN TEST; HAEMOPHILUS INFECTION; HEAD CIRCUMFERENCE; HUMAN; HYPERTENSION; HYPOGONADISM; INFANT; INTENSIVE CARE UNIT; MALE; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PONTOCEREBELLAR HYPOPLASIA; PRIORITY JOURNAL; SEIZURE; STRIDOR; TESTIS ATROPHY; WHEEZING;

FATAL OUTCOME; GONADAL DYSGENESIS; HUMANS; INFANT, NEWBORN; MAGNETIC RESONANCE IMAGING; MALE; OLIVOPONTOCEREBELLAR ATROPHIES; SYNDROME; TESTIS;

EID: 79953303828     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33897     Document Type: Article

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