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R3HDM1 haploinsufficiency is associated with mild intellectual disability.
Fukushi, Daisuke; Inaba, Mie; Katoh, Kimiko; Suzuki, Yasuyo; Enokido, Yasushi; Nomura, Noriko; Tokita, Yoshihito; Hayashi, Shin; Mizuno, Seiji; Yamada, Kenichiro; Wakamatsu, Nobuaki.
  • Fukushi D; Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.
  • Inaba M; Department of Pediatrics, Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan.
  • Katoh K; Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.
  • Suzuki Y; Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.
  • Enokido Y; Department of Cellular Pathology, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.
  • Nomura N; Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.
  • Tokita Y; Department of Disease Model, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.
  • Hayashi S; Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.
  • Mizuno S; Department of Pediatrics, Central Hospital, Aichi Developmental Disability Center, Kasugai, Japan.
  • Yamada K; Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.
  • Wakamatsu N; Department of Genetics, Institute for Developmental Research, Aichi Developmental Disability Center, Kasugai, Japan.
Am J Med Genet A ; 185(6): 1776-1786, 2021 06.
Article en En | MEDLINE | ID: mdl-33750005
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Predisposición Genética a la Enfermedad / Haploinsuficiencia / Discapacidad Intelectual Tipo de estudio: Risk_factors_studies Límite: Child / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
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XML
PubMed Links
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Discapacidades del Desarrollo / Predisposición Genética a la Enfermedad / Haploinsuficiencia / Discapacidad Intelectual Tipo de estudio: Risk_factors_studies Límite: Child / Humans / Male Idioma: En Año: 2021 Tipo del documento: Article