Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood-Reference-Cited by-同舟云学术

Distinctive facies, macrocephaly, and developmental delay are signs of a PTEN mutation in childhood

Published:2018-09 Issue:8 Volume:40 Page:678-684
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Kato Kohji,Mizuno Seiji,Inaba Mie,Fukumura Shinobu,Kurahashi Naoko,Maruyama Koichi,Ieda Daisuke,Ohashi Kei,Hori Ikumi,Negishi Yutaka,Hattori Ayako,Saitoh Shinji

Publisher

Elsevier BV

Subject

Clinical Neurology,Developmental Neuroscience,General Medicine,Pediatrics, Perinatology, and Child Health

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3. Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers;Lachlan;J Med Genet,2007

4. Clinical presentation of PTEN mutation in childhood in the absense of family history of Cowden syndrome;Busa;Eur J paediatr Neurol,2015

5. A combination of genetic and biochemical analyses for the diagnosis of PI3K-AKT-mTOR pathway-associated megalencephaly;Negishi;BMC Med Genet,2017

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