Keppen-lubinsky syndrome is caused by mutations in the inwardly rectifying K+ channel encoded by KCNJ6

American Journal of Human Genetics

Volumn 96, Issue 2, 2015, Pages 295-300

  Masotti, Andrea ^a   Uva, Paolo ^b   Davis Keppen, Laura ^c   Basel Vanagaite, Lina ^d,e,f   Cohen, Lior ^e   Pisaneschi, Elisa ^a   Celluzzi, Antonella ^a   Bencivenga, Paola ^a   Fang, Mingyan ^g   Tian, Mingyu ^h   Xu, Xun ^g   Cappa, Marco ^a   Dallapiccola, Bruno ^a  

^a BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^b CENTER FOR ADVANCED STUDIES   (Italy)

^c UNIVERSITY OF SOUTH DAKOTA   (United States)

^d SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^e RABIN MEDICAL CENTER   (Israel)

^f TEL AVIV UNIVERSITY   (Israel)

^g BGI SHENZHEN   (China)

^h Hong Kong Tech Coll (Tsing Yi)   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCINE; INWARDLY RECTIFYING POTASSIUM CHANNEL; NUCLEOTIDE; SERINE; G PROTEIN COUPLED INWARDLY RECTIFYING POTASSIUM CHANNEL; KCNJ6 PROTEIN, HUMAN; PRIMER DNA;

ARTICLE; CASE REPORT; CHILD; CONGENITAL DISORDER; CRYSTAL STRUCTURE; DEVELOPMENTAL DISORDER; DOWN SYNDROME; DYSPNEA; EXOME; FEBRILE CONVULSION; FEMUR FRACTURE; FLEXION CONTRACTURE; GENE; GENE DELETION; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; GENOME ANALYSIS; GINGIVA OVERGROWTH; HETEROZYGOTE; HUMAN; HYDRAMNIOS; INTELLECTUAL IMPAIRMENT; KCNJ6 GENE; KEPPEN LUBINSKY SYNDROME; LIPODYSTROPHY; MALE; MICROGNATHIA; MISSENSE MUTATION; MUSCLE HYPERTONIA; NUCLEOTIDE SEQUENCE; NUTRITIONAL STATUS; OPISTHOTONUS; PERCUTANEOUS ENDOSCOPIC GASTROSTOMY; PNEUMONIA; POTASSIUM CHANNELOPATHY; PRIORITY JOURNAL; PROTEIN STRUCTURE; QUADRIPLEGIA; RARE DISEASE; RESPIRATORY FAILURE; SCOLIOSIS; SEIZURE; SPASTICITY; SUBCUTANEOUS FAT; SUBCUTANEOUS TISSUE; UPPER RESPIRATORY TRACT OBSTRUCTION; CHEMICAL STRUCTURE; CHEMISTRY; CRANIOFACIAL MALFORMATION; DNA SEQUENCE; GENETICS; MOLECULAR GENETICS; MULTIPLE MALFORMATION SYNDROME; PATHOLOGY; PEDIGREE; SYNDROME;

ANIMALIA;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; CRANIOFACIAL ABNORMALITIES; DEVELOPMENTAL DISABILITIES; DNA PRIMERS; EXOME; G PROTEIN-COUPLED INWARDLY-RECTIFYING POTASSIUM CHANNELS; HUMANS; INTELLECTUAL DISABILITY; MALE; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ANALYSIS, DNA; SEQUENCE DELETION; SYNDROME;

EID: 84925131713     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.12.011     Document Type: Article

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