Mutations in FAM111b cause hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis

American Journal of Human Genetics

Volumn 93, Issue 6, 2013, Pages 1100-1107

  Mercier, Sandra ^a,b   Küry, Sébastien ^a   Shaboodien, Gasnat ^c   Houniet, Darren T ^d   Khumalo, Nonhlanhla P ^c   Bou Hanna, Chantal ^b   Bodak, Nathalie ^e   Cormier Daire, Valérie ^f   David, Albert ^a   Faivre, Laurence ^g,h   Figarella Branger, Dominique ⁱ   Gherardi, Romain K ^j   Glen, Elise ^d   Hamel, Antoine ^a   Laboisse, Christian ^b,e   Le Caignec, Cédric ^a   Lindenbaum, Pierre ^a,b   Magot, Armelle ^a   Munnich, Arnold ^g   Mussini, Jean Marie ^a   Pillay, Komala ^k   Rahman, Thahira ^d   Redon, Richard ^a,b   Salort Campana, Emmanuelle ⁱ   Santibanez Koref, Mauro ^d   Thauvin, Christel ^g,i   Barbarot, Sébastien ^l   Keavney, Bernard ^d,m   Bézieau, Stéphane ^a,b   Mayosi, Bongani M ^c   more..

^a NANTES UNIVERSITY HOSPITAL   (France)

^b UNIVERSITÉ DE NANTES   (France)

^c UNIVERSITY OF CAPE TOWN   (South Africa)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e HÔPITAL NECKER ENFANTS MALADES   (France)

^f ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^g UNIVERSITÉ DE BOURGOGNE   (France)

^h DIJON UNIVERSITY HOSPITAL   (France)

ⁱ TIMONE HOSPITAL   (France)

^j HENRI MONDOR HOSPITAL   (France)

^k UNIVERSITY OF CAPE TOWN   (South Africa)

^l CLINIQUE DERMATOLOGIQUE   (France)

^m UNIVERSITY OF MANCHESTER   (United Kingdom)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATASE; CALPAIN; CREATINE KINASE; MESSENGER RNA; NERVE CELL ADHESION MOLECULE; PEPTIDES AND PROTEINS; PROTEIN FAM111B; UNCLASSIFIED DRUG; URSODEOXYCHOLIC ACID;

ACHILLES TENDON; ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CHOLESTASIS; CONGENITAL SKIN DISEASE; CREATINE KINASE BLOOD LEVEL; ELECTROENCEPHALOGRAPHY; EXOME; FEMALE; GENETIC VARIABILITY; GENOTYPE PHENOTYPE CORRELATION; HETEROZYGOSITY; HUMAN; LUNG FIBROSIS; LYMPHOCYTIC INFILTRATION; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MYOPATHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN DOMAIN; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; TENDON CONTRACTURE;

ADOLESCENT; ADULT; CELL CYCLE PROTEINS; CHILD; CHILD, PRESCHOOL; CONTRACTURE; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUSCULAR DISEASES; MUTATION; PEDIGREE; PHENOTYPE; PULMONARY FIBROSIS; ROTHMUND-THOMSON SYNDROME; TENDONS; YOUNG ADULT;

EID: 84890299462     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.10.013     Document Type: Article

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