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

Universitätsklinik für Kinder- und Jugendheilkunde

Publikation: Beitrag in Fachzeitschrift › Originalarbeit › Begutachtung

77 Quellenangaben (Web of Science)

Originalsprache	Englisch
Seiten (von - bis)	128-131
Fachzeitschrift	AM J MED GENET PART A
Jahrgang	133A
Ausgabenummer	2
DOIs	https://doi.org/10.1002/ajmg.a.30515
Publikationsstatus	Veröffentlicht - 2005

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10.1002/ajmg.a.30515

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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",

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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 -