Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene

Allan Bayat; Maria Kirchhoff; Camilla G Madsen; Laura Roos; Sven Kreiborg

doi:10.1097/MCD.0000000000000182

Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene

Allan Bayat, Maria Kirchhoff, Camilla G Madsen, Laura Roos, Sven Kreiborg

Publikation: Bidrag til tidsskrift › Artikel › Forskning › peer review

Originalsprog	Engelsk
Sider (fra-til)	148-153
Antal sider	6
Tidsskrift	Clinical Dysmorphology
Vol/bind	26
Udgave nummer	3
DOI	https://doi.org/10.1097/MCD.0000000000000182
Status	Udgivet - jul. 2017

Adgang til dokumentet

10.1097/MCD.0000000000000182

Citationsformater

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title = "Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene",

keywords = "Child, Chromosome Deletion, Chromosome Mapping, Craniofacial Abnormalities/diagnosis, Facies, Female, Genetic Association Studies, High-Throughput Nucleotide Sequencing, Humans, Magnetic Resonance Imaging, NFI Transcription Factors/genetics, Pedigree, Polymicrogyria/diagnosis",

author = "Allan Bayat and Maria Kirchhoff and Madsen, {Camilla G} and Laura Roos and Sven Kreiborg",

year = "2017",

month = jul,

doi = "10.1097/MCD.0000000000000182",

language = "English",

volume = "26",

pages = "148--153",

journal = "Clinical Dysmorphology",

issn = "0962-8827",

publisher = "Lippincott Williams and Wilkins Ltd.",

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TY - JOUR

T1 - Familial craniofacial abnormality and polymicrogyria associated with a microdeletion affecting the NFIA gene

AU - Bayat, Allan

AU - Kirchhoff, Maria

AU - Madsen, Camilla G

AU - Roos, Laura

AU - Kreiborg, Sven

PY - 2017/7

Y1 - 2017/7

KW - Child

KW - Chromosome Deletion

KW - Chromosome Mapping

KW - Craniofacial Abnormalities/diagnosis

KW - Facies

KW - Female

KW - Genetic Association Studies

KW - High-Throughput Nucleotide Sequencing

KW - Humans

KW - Magnetic Resonance Imaging

KW - NFI Transcription Factors/genetics

KW - Pedigree

KW - Polymicrogyria/diagnosis

U2 - 10.1097/MCD.0000000000000182

DO - 10.1097/MCD.0000000000000182

M3 - Article

C2 - 28452798

SN - 0962-8827

VL - 26

SP - 148

EP - 153

JO - Clinical Dysmorphology

JF - Clinical Dysmorphology

IS - 3

ER -