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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, poor growth
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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Sumorok N,Goldfarb DSUpdate on cystinuriaCurr Opin Nephrol Hypertens224427-4312013
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