Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy

American Journal of Human Genetics

Volumn 98, Issue 3, 2016, Pages 562-570

  Harel, Tamar ^a   Yesil, Gozde ^b   Bayram, Yavuz ^a   Coban Akdemir, Zeynep ^a   Charng, Wu Lin ^a   Karaca, Ender ^a   Al Asmari, Ali ^c   Eldomery, Mohammad K ^a   Hunter, Jill V ^d   Jhangiani, Shalini N ^a   Rosenfeld, Jill A ^a   Pehlivan, Davut ^a   El Hattab, Ayman W ^e   Saleh, Mohammed A ^c   Leduc, Charles A ^f   Muzny, Donna ^a   Boerwinkle, Eric ^a,g   Gibbs, Richard A ^a   Chung, Wendy K ^f   Yang, Yaping ^a   Belmont, John W ^a   Lupski, James R ^a,d   more..

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b BEZMIALEM VAKIF UNIVERSITY   (Turkey)

^c KING FAHAD MEDICAL CITY   (Saudi Arabia)

^d TEXAS CHILDREN S HOSPITAL   (United States)

^e TAWAM HOSPITAL   (United Arab Emirates)

^f NewYork Presbyterian Hospital   (United States)

^g UNIVERSITY OF TEXAS   (United States)

Author keywords

cerebellar atrophy; EMC1; endoplasmic reticulum (ER) membrane complex; inter organellar communication; intracellular transport; mitochondrial membrane; neurodegeneration; Whole exome sequencing

Indexed keywords

ALLELE; ARTICLE; BODY DYSMORPHIC DISORDER; BRAIN ATROPHY; CEREBELLUM ATROPHY; CLINICAL FEATURE; CONSANGUINITY; DEVELOPMENTAL DISORDER; FACIES; FRAMESHIFT MUTATION; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HEAD CIRCUMFERENCE; HETEROZYGOTE; HOMOZYGOTE; HUMAN; INTELLECTUAL IMPAIRMENT; MUSCLE HYPOTONIA; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; SCOLIOSIS; SEIZURE; SPEECH DELAY; ADOLESCENT; AMINO ACID SEQUENCE; ATROPHY; CEREBELLUM; CHILD; DEVELOPMENTAL DISABILITIES; ENDOPLASMIC RETICULUM ASSOCIATED DEGRADATION; FEMALE; GENETIC ASSOCIATION STUDY; GENETIC VARIATION; GENETICS; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; PROTEIN FOLDING;

EMC10 PROTEIN, HUMAN; PROTEIN;

ADOLESCENT; ALLELES; AMINO ACID SEQUENCE; ATROPHY; CEREBELLUM; CHILD; CHILD, PRESCHOOL; DEVELOPMENTAL DISABILITIES; ENDOPLASMIC RETICULUM-ASSOCIATED DEGRADATION; FEMALE; GENETIC ASSOCIATION STUDIES; GENETIC VARIATION; HETEROZYGOTE; HUMANS; MAGNETIC RESONANCE IMAGING; MALE; MOLECULAR SEQUENCE DATA; MUSCLE HYPOTONIA; MUTATION; PEDIGREE; PROTEIN FOLDING; PROTEINS; SCOLIOSIS;

EID: 84959909553     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2016.01.011     Document Type: Article

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