| 词条 | ZTTK syndrome |
| 释义 |
| name = | synonym = Zhu-Tokita-Takenouchi-Kim syndrome | image = | image_size = | alt = | caption = | pronounce = | specialty = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }}ZTTK Syndrome (Zhu-Tokita-Takenouchi-Kim syndrome) is a rare disease caused in humans by a genetic mutation of the SON gene. There are range of symptoms, most notably moderate to severe intellectual disability and developmental delay.[1][2] References1. ^{{cite journal |doi=10.1016/j.ajhg.2016.06.029 |pmid=27545680 |pmc=5011044 |title=De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome |journal=The American Journal of Human Genetics |volume=99 |issue=3 |pages=711–719 |year=2016 |last1=Kim |first1=Jung-Hyun |last2=Shinde |first2=Deepali N |last3=Reijnders |first3=Margot R.F |last4=Hauser |first4=Natalie S |last5=Belmonte |first5=Rebecca L |last6=Wilson |first6=Gregory R |last7=Bosch |first7=Daniëlle G.M |last8=Bubulya |first8=Paula A |last9=Shashi |first9=Vandana |last10=Petrovski |first10=Slavé |last11=Stone |first11=Joshua K |last12=Park |first12=Eun Young |last13=Veltman |first13=Joris A |last14=Sinnema |first14=Margje |last15=Stumpel |first15=Connie T.R.M |last16=Draaisma |first16=Jos M |last17=Nicolai |first17=Joost |last18=Yntema |first18=Helger G |last19=Lindstrom |first19=Kristin |last20=De Vries |first20=Bert B.A |last21=Jewett |first21=Tamison |last22=Santoro |first22=Stephanie L |last23=Vogt |first23=Julie |last24=Bachman |first24=Kristine K |last25=Seeley |first25=Andrea H |last26=Krokosky |first26=Alyson |last27=Turner |first27=Clesson |last28=Rohena |first28=Luis |last29=Hempel |first29=Maja |last30=Kortüm |first30=Fanny |display-authors=29 }} {{genetic-disorder-stub}}2. ^{{cite web|title=OMIM Entry # 617140 - ZTTK SYNDROME; ZTTKS|url=http://omim.org/entry/617140|website=Online Mendelian Inheritance in Man|publisher=Johns Hopkins University|accessdate=27 October 2017|language=en-us}} 3 : Rare syndromes|Genetic syndromes|Syndromes with mental retardation |
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