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Clinical and molecular genetic characterization of two female patients harboring the Xq27.3q28 deletion with different ratios of X chromosome inactivation.
Katoh, Kimiko; Aiba, Kaori; Fukushi, Daisuke; Yoshimura, Jun; Suzuki, Yasuyo; Mitsui, Jun; Morishita, Shinichi; Tuji, Shoji; Yamada, Kenichiro; Wakamatsu, Nobuaki.
Affiliation
  • Katoh K; Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Aichi, Japan.
  • Aiba K; Department of Pediatrics, Toyohashi Municipal Hospital, Toyohashi, Aichi, Japan.
  • Fukushi D; Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Aichi, Japan.
  • Yoshimura J; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.
  • Suzuki Y; Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Aichi, Japan.
  • Mitsui J; Department of Molecular Neurology, The University of Tokyo, Tokyo, Japan.
  • Morishita S; Department of Computational Biology and Medical Sciences, Graduate School of Frontier Sciences, The University of Tokyo, Tokyo, Japan.
  • Tuji S; Department of Molecular Neurology, The University of Tokyo, Tokyo, Japan.
  • Yamada K; Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Aichi, Japan.
  • Wakamatsu N; Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Aichi, Japan.
Hum Mutat ; 41(8): 1447-1460, 2020 08.
Article de En | MEDLINE | ID: mdl-32485067
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Délétion de segment de chromosome / Inactivation du chromosome X / Déficience intellectuelle Limites: Child, preschool / Female / Humans / Infant Pays/Région comme sujet: Asia Langue: En Journal: Hum Mutat Sujet du journal: GENETICA MEDICA Année: 2020 Type de document: Article Pays d'affiliation: Japon Pays de publication: États-Unis d'Amérique
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Délétion de segment de chromosome / Inactivation du chromosome X / Déficience intellectuelle Limites: Child, preschool / Female / Humans / Infant Pays/Région comme sujet: Asia Langue: En Journal: Hum Mutat Sujet du journal: GENETICA MEDICA Année: 2020 Type de document: Article Pays d'affiliation: Japon Pays de publication: États-Unis d'Amérique