Clinical and genetic characterization of individuals with predicted deleterious
Abnormalities, Multiple
/ genetics
Adolescent
Child
Child, Preschool
Developmental Disabilities
/ genetics
Exome
/ genetics
Female
Frameshift Mutation
/ genetics
Heterozygote
Humans
Imidazoles
Infant
Intellectual Disability
/ genetics
Intracellular Signaling Peptides and Proteins
/ genetics
Male
Muscle Hypotonia
/ genetics
Mutation
/ genetics
Phenotype
Transcription Factors
/ genetics
Exome Sequencing
/ methods
2-3 toe cutaneous syndactyly
abdominal obesity
aggressive behavior
almond-shaped palpebral fissure
amblyopia
anteverted nares
attention deficit hyperactivity disorder
autism
blurred vision
chronic constipation
chronic fatigue
clinodactyly of the 5th finger
gastroesophageal reflux
generalized neonatal hypotonia
high forehead
intellectual disability
mild
mild global developmental delay
synophrys
thickened helices
thin upper lip vermilion
Journal
Cold Spring Harbor molecular case studies
ISSN: 2373-2873
Titre abrégé: Cold Spring Harb Mol Case Stud
Pays: United States
ID NLM: 101660017
Informations de publication
Date de publication:
08 2019
08 2019
Historique:
received:
26
03
2019
accepted:
31
05
2019
pubmed:
7
6
2019
medline:
7
7
2020
entrez:
7
6
2019
Statut:
epublish
Résumé
Heterozygous deleterious variants in
Identifiants
pubmed: 31167805
pii: mcs.a004200
doi: 10.1101/mcs.a004200
pmc: PMC6672026
pii:
doi:
Substances chimiques
Imidazoles
0
Intracellular Signaling Peptides and Proteins
0
PHIP protein, human
0
Transcription Factors
0
Types de publication
Case Reports
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : NIDDK NIH HHS
ID : R01 DK052431
Pays : United States
Organisme : NIDDK NIH HHS
ID : T35 DK093430
Pays : United States
Organisme : NCATS NIH HHS
ID : UL1 TR001863
Pays : United States
Informations de copyright
© 2019 Craddock et al.; Published by Cold Spring Harbor Laboratory Press.
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