GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.

Andreas R Janecke; Hans Christian Hennies; Barbara Günther; Gabriele Gansl; Josef Smolle; Elisabeth M Messmer; Gerd Utermann; Olaf Rittinger

doi:10.1002/ajmg.a.30515

GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.

Andreas R Janecke, Hans Christian Hennies, Barbara Günther, Gabriele Gansl, Josef Smolle, Elisabeth M Messmer, Gerd Utermann, Olaf Rittinger

Department of Pediatrics

Research output: Contribution to journal › Original Article › peer-review

77 Citations (Web of Science)

Original language	English
Pages (from-to)	128-131
Journal	AM J MED GENET PART A
Volume	133A
Issue number	2
DOIs	https://doi.org/10.1002/ajmg.a.30515
Publication status	Published - 2005

Keywords

SENSORINEURAL HEARING-LOSS
DOMINANT CONNEXIN DISORDERS
DE-NOVO MUTATION
KID SYNDROME
ENCODING CONNEXIN-26
ECTODERMAL DYSPLASIA
MISSENSE MUTATION
KERATODERMA
IMPAIRMENT
SPECTRUM

Access to Document

10.1002/ajmg.a.30515

Cite this

@article{c6dd8f2a8fc94a2fb31e6617637db0d6,

title = "GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.",

keywords = "SENSORINEURAL HEARING-LOSS, DOMINANT CONNEXIN DISORDERS, DE-NOVO MUTATION, KID SYNDROME, ENCODING CONNEXIN-26, ECTODERMAL DYSPLASIA, MISSENSE MUTATION, KERATODERMA, IMPAIRMENT, SPECTRUM",

author = "Janecke, \{Andreas R\} and Hennies, \{Hans Christian\} and Barbara G{\"u}nther and Gabriele Gansl and Josef Smolle and Messmer, \{Elisabeth M\} and Gerd Utermann and Olaf Rittinger",

year = "2005",

doi = "10.1002/ajmg.a.30515",

language = "English",

volume = "133A",

pages = "128--131",

journal = "AM J MED GENET PART A",

issn = "1552-4825",

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}

TY - JOUR

T1 - GJB2 mutations in keratitis-ichthyosis-deafness syndrome including its fatal form.

AU - Janecke, Andreas R

AU - Hennies, Hans Christian

AU - Günther, Barbara

AU - Gansl, Gabriele

AU - Smolle, Josef

AU - Messmer, Elisabeth M

AU - Utermann, Gerd

AU - Rittinger, Olaf

PY - 2005

Y1 - 2005

KW - SENSORINEURAL HEARING-LOSS

KW - DOMINANT CONNEXIN DISORDERS

KW - DE-NOVO MUTATION

KW - KID SYNDROME

KW - ENCODING CONNEXIN-26

KW - ECTODERMAL DYSPLASIA

KW - MISSENSE MUTATION

KW - KERATODERMA

KW - IMPAIRMENT

KW - SPECTRUM

U2 - 10.1002/ajmg.a.30515

DO - 10.1002/ajmg.a.30515

M3 - Original Article

C2 - 15633193

SN - 1552-4825

VL - 133A

SP - 128

EP - 131

JO - AM J MED GENET PART A

JF - AM J MED GENET PART A

IS - 2

ER -