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2014 2
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Genetic disorders associated with postnatal microcephaly.
Seltzer LE, Paciorkowski AR. Seltzer LE, et al. Am J Med Genet C Semin Med Genet. 2014 Jun;166C(2):140-55. doi: 10.1002/ajmg.c.31400. Epub 2014 May 16. Am J Med Genet C Semin Med Genet. 2014. PMID: 24839169 Review.
Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome), as well as more recently described clinical entities associated with mutations in CASK, CDKL5, CREBBP, and EP300 (Rubinstein-Taybi syndrome), FOXG1, SLC9A6 (Christi …
Among these are classic disorders such as Angelman syndrome and MECP2-related disorder (formerly Rett syndrome), as well as more recently de …
If not Angelman, what is it? A review of Angelman-like syndromes.
Tan WH, Bird LM, Thibert RL, Williams CA. Tan WH, et al. Am J Med Genet A. 2014 Apr;164A(4):975-92. doi: 10.1002/ajmg.a.36416. Am J Med Genet A. 2014. PMID: 24779060 Review.
The single-gene disorders include Pitt-Hopkins syndrome (TCF4), Christianson syndrome (SLC9A6), Mowat-Wilson syndrome (ZEB2), Kleefstra syndrome (EHMT1), and Rett (MECP2) syndrome. ...
The single-gene disorders include Pitt-Hopkins syndrome (TCF4), Christianson syndrome (SLC9A6), Mowat-Wilson syndrome (ZEB2), …
The expanding phenotypic spectrum of female SLC9A6 mutation carriers: a case series and review of the literature.
Sinajon P, Verbaan D, So J. Sinajon P, et al. Hum Genet. 2016 Aug;135(8):841-50. doi: 10.1007/s00439-016-1675-5. Epub 2016 May 3. Hum Genet. 2016. PMID: 27142213 Review.
Christianson syndrome (OMIM 300243), caused by mutations in the X-linked SLC9A6 gene, is characterized by severe global developmental delay and intellectual disability, developmental regression, epilepsy, microcephaly and impaired ocular movements. ...There is littl …
Christianson syndrome (OMIM 300243), caused by mutations in the X-linked SLC9A6 gene, is characterized by severe global develo …