A Korean boy with a mutation who presented with overgrowth, intellectual disability, and autism

A Korean boy with a mutation who presented with overgrowth, intellectual disability, and autism

Bibliographic Details
Main Authors:	Chiwoo Kim, Eu-seon Noh, Sung Yoon Cho
Format:	Article
Language:	English
Published:	Korean Society of Pediatric Endocrinology 2023-02-01
Series:	Annals of Pediatric Endocrinology & Metabolism
Online Access:	http://e-apem.org/upload/pdf/apem-2244130-065.pdf

Similar Items

Mixed diabetic ketoacidosis and hyperglycemic hyperosmolarity in a girl with nephronophthisis 4 presenting with rhabdomyolysis and pancreatitis
by: Eu-Seon Noh, et al.
Published: (2023-12-01)

Resistance to thyroid hormone and nonfunctioning pituitary microadenoma in a 13-year-old boy with THRB mutation
by: Jiyeon Kim, et al.
Published: (2024-02-01)

Staff's Collaborative Work Process with an Adolescent Boy with Autism and Intellectual Disability in Community-based Sheltered Housing
by: Marie Hübel, et al.
Published: (2008-03-01)

Natural History and Molecular Characteristics of Korean Patients with Mucopolysaccharidosis Type III
by: Min-Sun Kim, et al.
Published: (2022-04-01)

Wingate anaerobic test of boys with and without intellectual disability
by: Lee, Kok Sonk.
Published: (2008)

Intellectual Disability and Autism Spectrum Disorders
by: Sorokin A.B.
Published: (2018-03-01)

A novel RAB39B mutation and concurrent de novo NF1 mutation in a boy with neurofibromatosis type 1, intellectual disability, and autism: a case report
by: Claudia Santoro, et al.
Published: (2020-09-01)

Mutations in RAB39B in individuals with intellectual disability, autism spectrum disorder, and macrocephaly
by: Marc Woodbury-Smith, et al.
Published: (2017-11-01)

Treating verbal working memory in a boy with intellectual disability
by: Margherita eOrsolini
Published: (2015-07-01)

Sexual Abuse in Adolescent Girls and Boys with Mild Intellectually Disable
by: Hassan Zareei Mahmoodabadi, et al.
Published: (2021-03-01)

IQSEC2-Associated Intellectual Disability and Autism
by: Nina S. Levy, et al.
Published: (2019-06-01)

On the issue of intellectual disability in autism spectrum disorders
by: Morozov S.A., et al.
Published: (2016-04-01)

First female Korean child with Coffin-Lowry syndrome: a novel variant in diagnosed by exome sequencing and a literature review
by: Ari Song, et al.
Published: (2022-01-01)

Somatic overgrowth predisposes to seizures in autism spectrum disorders.
by: Giulia Valvo, et al.
Published: (2013-01-01)

Novel Compound Heterozygous Mutations in the TRAPPC9 Gene in Two Siblings With Autism and Intellectual Disability
by: Areerat Hnoonual, et al.
Published: (2019-02-01)

Self-presentations and intellectual disability
by: Anna M. Kittelsaa
Published: (2013-03-01)

Psychopathology in Adults with Autism Spectrum Disorder and Intellectual Disability
by: J. Mccarthy
Published: (2022-06-01)

Effects of Therapeutic Horseback Riding on Cognition and Language in Children With Autism Spectrum Disorder or Intellectual Disability: A Preliminary Study
by: Sara Kwon, et al.
Published: (2019-06-01)

Could <i>Candida</i> Overgrowth Be Involved in the Pathophysiology of Autism?
by: Anna Herman, et al.
Published: (2022-01-01)

Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability
by: Ji Yoon Han, et al.
Published: (2018-12-01)

The Effect of Communicational Skills Training on Social Anxiety in Boys Adolescents with Intellectual Disability
by: sgf gfsdg, et al.
Published: (2016-04-01)

The Effect of Communicational Skills Training on Social Anxiety in Boys Adolescents with Intellectual Disability
by: کاظم برزگر بفرویی, et al.
Published: (2017-08-01)

Endocrine and Metabolic Illnesses in Young Adults with Prader–Willi Syndrome
by: Eu-Seon Noh, et al.
Published: (2022-05-01)

Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients
by: Elena Bonora, et al.
Published: (2014-06-01)

Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients
by: Elena Bonora, et al.
Published: (2014-12-01)

Child with intellectual disability misdiagnosed as autism: a case study
by: Sibgha Farooqi, et al.
Published: (2021-12-01)

Synaptic Dysfunction in Neurodevelopmental Disorders Associated with Autism and Intellectual Disabilities
by: Bear, Mark, et al.
Published: (2015)

Socioeconomic Disparities and Prevalence of Autism Spectrum Disorders and Intellectual Disability.
by: Malika Delobel-Ayoub, et al.
Published: (2015-01-01)

Autism and intellectual disability are differentially related to sociodemographic background at birth.
by: Helen Leonard, et al.
Published: (2011-03-01)

Dysbiosis, small intestinal bacterial overgrowth and biofilms in autism and chronic illness
by: Anju Usman Singh
Published: (2018-06-01)

Network efficiency in autism spectrum disorder and its relation to brain overgrowth
by: John D Lewis, et al.
Published: (2013-12-01)

Case Report: Clinical Features of a Chinese Boy With Epileptic Seizures and Intellectual Disabilities Who Carries a Truncated NUS1 Variant
by: Pingli Zhang, et al.
Published: (2021-08-01)

Comorbidity Burden in Adults With Autism Spectrum Disorders and Intellectual Disabilities—A Report From the EFAAR (Frailty Assessment in Ageing Adults With Autism Spectrum and Intellectual Disabilities) Study
by: Stéphanie Miot, et al.
Published: (2019-09-01)

A Preliminary Validation Study of the Korean Version of the Minnesota Self-Determination Scales for Adults With Intellectual Disabilities
by: Jaehyun Cho
Published: (2014-01-01)

Association of Autism Onset, Epilepsy, and Behavior in a Community of Adults with Autism and Severe Intellectual Disability
by: Stefano Damiani, et al.
Published: (2020-07-01)

Implementing proposed reforms of the Mental Health Act for people with intellectual disability and autism: the perspective of multidisciplinary professionals in intellectual disability teams
by: Bharat Velani, et al.
Published: (2022-11-01)

Trauma and psychosocial adversity in youth with autism spectrum disorder and intellectual disability
by: Sarah J. Palmer, et al.
Published: (2024-01-01)

New Candidates for Autism/Intellectual Disability Identified by Whole-Exome Sequencing
by: Lucia Pia Bruno, et al.
Published: (2021-12-01)

Eating disturbances in subjects with autism spectrum disorder without intellectual disabilities
by: V. Bertino, et al.
Published: (2021-04-01)

NEURODEVELOPMENTAL DISORDERS IN CHILDREN WITH EPILEPSY: INTELLECTUAL DISABILITY AND AUTISM SPECTRUM DISORDERS
by: N. N. Zavadenko
Published: (2018-02-01)