A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3

Brain

Volumn 136, Issue 2, 2013, Pages 522-535

  Chew, Sheena ^a,b,c   Balasubramanian, Ravikumar ^d   Chan, Wai Man ^a,c   Kang, Peter B ^a,b   Andrews, Caroline ^a,b,c   Webb, Bryn D ^e   MacKinnon, Sarah E ^a   Oystreck, Darren T ^a   Rankin, Jessica ^a,b   Crawford, Thomas O ^f   Geraghty, Michael ^g   Pomeroy, Scott L ^a,b,h   Crowley, William F ^d   Jabs, Ethylin Wang ^e   Hunter, David G ^a   Grant, Patricia E ^a   Engle, Elizabeth C ^a,b,c,h  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b HARVARD MEDICAL SCHOOL   (United States)

^c HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^d MASSACHUSETTS GENERAL HOSPITAL   (United States)

^e MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^f JOHNS HOPKINS HOSPITAL   (United States)

^g CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^h BROAD INSTITUTE OF MIT AND HARVARD   (United States)

Author keywords

CFEOM; cyclic vomiting; Kallmann syndrome; peripheral neuropathy; TUBB3

Indexed keywords

BETA TUBULIN; BETA TUBULIN ISOTYPE 3; DNA; UNCLASSIFIED DRUG;

ABDUCENS NERVE; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ANOSMIA; ANTERIOR COMMISSURE; ARTICLE; BETA TUBULIN ISOTYPE 3 E410K SYNDROME; CHILD; CLINICAL ARTICLE; CORPUS CALLOSUM; CRYPTORCHISM; CYCLIC VOMITING SYNDROME; DISEASE SEVERITY; DIVERGENT STRABISMUS; ELECTROPHYSIOLOGY; FACIAL NERVE PARALYSIS; FEMALE; GASTROINTESTINAL MOTILITY DISORDER; GENOTYPE PHENOTYPE CORRELATION; GROWTH CURVE; HETEROZYGOTE; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; INTELLECTUAL IMPAIRMENT; KALLMANN SYNDROME; MALE; MICROPENIS; MIDFACE HYPOPLASIA; MISSENSE MUTATION; MOEBIUS SYNDROME; MULTIPLE MALFORMATION SYNDROME; NEUROIMAGING; OCULOMOTOR NERVE; OLFACTORY BULB; OLFACTORY NERVE; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PTOSIS; SCHOOL CHILD; SHORT STATURE; TRACHEOMALACIA; TROCHLEAR NERVE; VAGUS NERVE; VOCAL CORD PARALYSIS; VOMITING;

EID: 84874324759     PISSN: 00068950     EISSN: 14602156     Source Type: Journal    
DOI: 10.1093/brain/aws345     Document Type: Article

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