A boy with homozygous microdeletion of NEUROG1 presents with a congenital cranial dysinnervation disorder [Moebius syndrome variant]

Behavioral and Brain Functions

Volumn 9, Issue 1, 2013, Pages

  Schröder, Julia C ^a   Läßig, Anne K ^b   Galetzka, Danuta ^a   Peters, Angelika ^a   Castle, John C ^b   Diederich, Stefan ^a   Zechner, Ulrich ^a   Müller Forell, Wibke ^b   Keilmann, Annerose ^b   Bartsch, Oliver ^a  

^a UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^b JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

Aplasia hypoplasia of cranial nerves V and VIII; Aplasia hypoplasia of cranial sensory ganglia; Autosomal recessive; Congenital cranial dysinnervation disorder; Disorder of oral motor function; Homozygous deletion; Moebius syndrome variant; Mondini dysplasia; NEUROG1; Sensorineural deafness

Indexed keywords

DENDRITIC CELL NUCLEAR PROTEIN 1; NEUROGENIN 1; NUCLEAR PROTEIN; TIFA RELATED PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BALANCE DISORDER; CASE REPORT; CENTRAL NERVOUS SYSTEM DISEASE; CHILD; CHROMOSOME 5Q; COMPUTER ASSISTED TOMOGRAPHY; CONGENITAL CRANIAL DYSINNERVATION DISORDER; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; DYSPHAGIA; HOMOZYGOTE; HUMAN; MALE; MICROARRAY ANALYSIS; MOTOR DYSFUNCTION; NUCLEAR MAGNETIC RESONANCE IMAGING; PALPEBRAL FISSURE ANOMALY; PERCEPTION DEAFNESS; PLAGIOCEPHALY; PRESCHOOL CHILD; PRIORITY JOURNAL; SEQUENCE ANALYSIS; TORTICOLLIS;

BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CHILD; CHROMOSOME MAPPING; CONSANGUINITY; DNA MUTATIONAL ANALYSIS; GENE DELETION; GENOME-WIDE ASSOCIATION STUDY; HUMANS; KARYOTYPING; MAGNETIC RESONANCE IMAGING; MALE; MICROARRAY ANALYSIS; MOBIUS SYNDROME; NERVE TISSUE PROTEINS; NEUROLOGIC EXAMINATION; POLYMERASE CHAIN REACTION; SKULL; TOMOGRAPHY, X-RAY COMPUTED;

EID: 84873938161     PISSN: None     EISSN: 17449081     Source Type: Journal    
DOI: 10.1186/1744-9081-9-7     Document Type: Article

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