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Summary
PITUITARY STALK INTERRUPTION SYNDROME (PSIS)
95496

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
rare (m>w)
symptoms
cholestasis
growth retardation
hypoglycemia
micropenis
onset, childhood
onset, infancy
onset, neonatal
puberty, delayed or missing
seizures
short stature
laboratory finding
Human growth hormone (hGH) decreasedserum
MRI, brain, abnormalities -
Literature
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Salvatore D,Buzzetti R, Mastella GAn overview of international literature from cystic fibrosis registries. Part 5: Update 2012-2015 on lung diseasePediatr Pulmonol51111251-12632016
Savant AP,McColley SAPediatric Pulmonology year in review 2015: Part 4Pediatr Pulmonol517754-7652016
Sandau US,et al.Adenosine Kinase Deficiency in the Brain Results in Maladaptive Synaptic PlasticityJ Neurosci364812117-12122016
Eggermann T,Venghaus A, Zerres KCystinuria: an inborn cause of urolithiasisOrphanet J Rare Dis70132012
Froese DS,et al.Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase DeficiencyHum Mutat375427-4382016
Pereira DJ,Schoolwerth AC, Pais VMCystinuria: current concepts and future directionsClin Nephrol833138-1462015
Claes DJ,Jackson ECystinuria: mechanisms and managementPediatr Nephrol27112031-20382012
Copelovitch LUrolithiasis in children: medical approachPediatr Clin North Am594881-8962012
Elborn JSCystic fibrosisLancet388100592519-25312016