MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

Ingrid Bader; E Decker; Johannes A. Mayr; V Lunzer; Johannes Koch; E Boltshauser; Wolfgang Sperl; P Pietsch; B Ertl-Wagner; H Bolz; C Bergmann; Olaf Rittinger

doi:10.1016/j.ejmg.2016.06.007

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

Ingrid Bader (First author), E Decker, Johannes A. Mayr (Co-author), V Lunzer, Johannes Koch (Co-author), E Boltshauser, Wolfgang Sperl (Co-author), P Pietsch, B Ertl-Wagner, H Bolz, C Bergmann, Olaf Rittinger (Last author)

Department of Pediatrics

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

14 Citations (Web of Science)

Original language	English
Pages (from-to)	386-391
Journal	EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume	59
Issue number	8
DOIs	https://doi.org/10.1016/j.ejmg.2016.06.007
Publication status	Published - 2016

Keywords

MECKEL-GRUBER-SYNDROME
ABNORMAL EYE-MOVEMENTS
REVEALS
RETARDATION
DISORDERS
PATHOLOGY
EVOLUTION
VERMIS
MODEL

Access to Document

10.1016/j.ejmg.2016.06.007

Cite this

@article{11a08f7a4b4841cf88895f76c69c0fcd,

title = "MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.",

keywords = "MECKEL-GRUBER-SYNDROME, ABNORMAL EYE-MOVEMENTS, REVEALS, RETARDATION, DISORDERS, PATHOLOGY, EVOLUTION, VERMIS, MODEL",

author = "Ingrid Bader and E Decker and Mayr, {Johannes A.} and V Lunzer and Johannes Koch and E Boltshauser and Wolfgang Sperl and P Pietsch and B Ertl-Wagner and H Bolz and C Bergmann and Olaf Rittinger",

note = "Bader, Mayr, Lunzer, Koch, Sperl, Rittinger: Children{\textquoteright}s Hospital, Paracelsus Medical University, Salzburg, Austria",

year = "2016",

doi = "10.1016/j.ejmg.2016.06.007",

language = "English",

volume = "59",

pages = "386--391",

journal = "EUROPEAN JOURNAL OF MEDICAL GENETICS",

issn = "1769-7212",

publisher = "Elsevier ",

number = "8",

}

TY - JOUR

T1 - MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

AU - Bader, Ingrid

AU - Decker, E

AU - Mayr, Johannes A.

AU - Lunzer, V

AU - Koch, Johannes

AU - Boltshauser, E

AU - Sperl, Wolfgang

AU - Pietsch, P

AU - Ertl-Wagner, B

AU - Bolz, H

AU - Bergmann, C

AU - Rittinger, Olaf

N1 - Bader, Mayr, Lunzer, Koch, Sperl, Rittinger: Children’s Hospital, Paracelsus Medical University, Salzburg, Austria

PY - 2016

Y1 - 2016

KW - MECKEL-GRUBER-SYNDROME

KW - ABNORMAL EYE-MOVEMENTS

KW - REVEALS

KW - RETARDATION

KW - DISORDERS

KW - PATHOLOGY

KW - EVOLUTION

KW - VERMIS

KW - MODEL

U2 - 10.1016/j.ejmg.2016.06.007

DO - 10.1016/j.ejmg.2016.06.007

M3 - Original Article

C2 - 27377014

SN - 1769-7212

VL - 59

SP - 386

EP - 391

JO - EUROPEAN JOURNAL OF MEDICAL GENETICS

JF - EUROPEAN JOURNAL OF MEDICAL GENETICS

IS - 8

ER -