Dissecting the Wolf–Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism

Marcella Zollino; P. N. Doronzio

doi:10.1038/s10038-018-0476-1

Dissecting the Wolf–Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism

Marcella Zollino^*
, P. N. Doronzio

^*Autore corrispondente per questo lavoro

Risultato della ricerca: Contributo in rivista › Articolo › peer review

6 Citazioni (Scopus)

Abstract

N/A

Lingua originale	Inglese
pagine (da-a)	859-861
Numero di pagine	3
Rivista	Journal of Human Genetics
Volume	63
Numero di pubblicazione	8
DOI	https://doi.org/10.1038/s10038-018-0476-1
Stato di pubblicazione	Pubblicato - 2018

All Science Journal Classification (ASJC) codes

Genetica
Genetica (clinica)

Keywords

Abnormalities
Chromosome Deletion
Craniofacial Abnormalities
Growth Disorders
Histone-Lysine N-Methyltransferase
Humans
Intellectual Disability
Multiple
Muscular Atrophy
Mutation
Phenotype
Repressor Proteins
Wolf-Hirschhorn Syndrome

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10.1038/s10038-018-0476-1

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title = "Dissecting the Wolf–Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism",

abstract = "N/A",

keywords = "Abnormalities, Chromosome Deletion, Craniofacial Abnormalities, Growth Disorders, Histone-Lysine N-Methyltransferase, Humans, Intellectual Disability, Multiple, Muscular Atrophy, Mutation, Phenotype, Repressor Proteins, Wolf-Hirschhorn Syndrome, Abnormalities, Chromosome Deletion, Craniofacial Abnormalities, Growth Disorders, Histone-Lysine N-Methyltransferase, Humans, Intellectual Disability, Multiple, Muscular Atrophy, Mutation, Phenotype, Repressor Proteins, Wolf-Hirschhorn Syndrome",

author = "Marcella Zollino and Doronzio, \{P. N.\}",

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doi = "10.1038/s10038-018-0476-1",

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AU - Zollino, Marcella

AU - Doronzio, P. N.

PY - 2018

Y1 - 2018

N2 - N/A

AB - N/A

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KW - Chromosome Deletion

KW - Craniofacial Abnormalities

KW - Growth Disorders

KW - Histone-Lysine N-Methyltransferase

KW - Humans

KW - Intellectual Disability

KW - Multiple

KW - Muscular Atrophy

KW - Mutation

KW - Phenotype

KW - Repressor Proteins

KW - Wolf-Hirschhorn Syndrome

KW - Abnormalities

KW - Chromosome Deletion

KW - Craniofacial Abnormalities

KW - Growth Disorders

KW - Histone-Lysine N-Methyltransferase

KW - Humans

KW - Intellectual Disability

KW - Multiple

KW - Muscular Atrophy

KW - Mutation

KW - Phenotype

KW - Repressor Proteins

KW - Wolf-Hirschhorn Syndrome

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JO - Journal of Human Genetics

JF - Journal of Human Genetics

IS - 8

ER -

Dissecting the Wolf–Hirschhorn syndrome phenotype: WHSC1 is a neurodevelopmental gene contributing to growth delay, intellectual disability, and to the facial dysmorphism

Abstract

All Science Journal Classification (ASJC) codes

Keywords

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