Keutel syndrome: Report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis

American Journal of Medical Genetics, Part A

Volumn 164, Issue 4, 2014, Pages 1062-1068

  Weaver, K Nicole ^a   El Hallek, Moussa ^a   Hopkin, Robert J ^a   Sund, Kristen L ^a   Henrickson, Michael ^a   del Gaudio, Daniela ^b   Yuksel, Adnan ^c   Acar, Gül Ozbilen ^d   Bober, Michael B ^e   Kim, Jinoh ^f   Boyadjiev, Simeon A ^f  

^a CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

^b UNIVERSITY OF CHICAGO   (United States)

^c ISTANBUL UNIVERSITY   (Turkey)

^d ISTANBUL MEDENIYET UNIVERSITY   (Turkey)

^e NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

ARSE; Chondrodysplasia punctata; Keutel; MGP; Relapsing polychondritis

Indexed keywords

ADULT; ARTICLE; ARYLSULFATASE E DEFICIENCY; AUDIOMETRY; AUTOSOMAL RECESSIVE DISORDER; CERVICAL SPINE RADIOGRAPHY; CHILD; CHRONIC OBSTRUCTIVE LUNG DISEASE; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; DISEASE SEVERITY; ECHOCARDIOGRAPHY; ENZYME DEFICIENCY; EXON; FEMALE; GENE DELETION; HUMAN; KEUTEL SYNDROME; MALE; MGP GENE; MUTATIONAL ANALYSIS; MUTATOR GENE; NONSENSE MUTATION; PREDICTION; PRIORITY JOURNAL; PULMONARY ARTERY STENOSIS; RELAPSING POLYCHONDRITIS; SCHOOL CHILD; SPIROMETRY; THORAX RADIOGRAPHY; YOUNG ADULT; CALCINOSIS; CASE REPORT; CHONDRODYSPLASIA PUNCTATA; CHONDROPATHY; GENETICS; HAND MALFORMATION; MULTIPLE MALFORMATION SYNDROME; PULMONARY VALVE STENOSIS; X CHROMOSOME LINKED DISORDER;

ARSE PROTEIN, HUMAN; ARYLSULFATASE; CALCIUM BINDING PROTEIN; MATRIX GLA PROTEIN; SCLEROPROTEIN;

ABNORMALITIES, MULTIPLE; ADULT; ARYLSULFATASES; CALCINOSIS; CALCIUM-BINDING PROTEINS; CARTILAGE DISEASES; CHONDRODYSPLASIA PUNCTATA; EXONS; EXTRACELLULAR MATRIX PROTEINS; FEMALE; GENETIC DISEASES, X-LINKED; HAND DEFORMITIES, CONGENITAL; HUMANS; MALE; POLYCHONDRITIS, RELAPSING; PULMONARY VALVE STENOSIS; SEQUENCE DELETION; YOUNG ADULT;

EID: 84896313502     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36390     Document Type: Article

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