FAM111A mutations result in hypoparathyroidism and impaired skeletal development

American Journal of Human Genetics

Volumn 92, Issue 6, 2013, Pages 990-995

  Unger, Sheila ^a   Górna, Maria W ^b   Le Béchec, Antony ^c   Do Vale Pereira, Sonia ^a   Bedeschi, Maria Francesca ^d   Geiberger, Stefan ^e   Grigelioniene, Giedre ^e   Horemuzova, Eva ^e   Lalatta, Faustina ^d   Lausch, Ekkehart ^f   Magnani, Cinzia ^g   Nampoothiri, Sheela ^h   Nishimura, Gen ⁱ   Petrella, Duccio ^j   Rojas Ringeling, Francisca ^k   Utsunomiya, Akari ^l   Zabel, Bernhard ^f   Pradervand, Sylvain ^m   Harshman, Keith ^m   Campos Xavier, Belinda ^a   Bonafé, Luisa ^a   Superti Furga, Giulio ^b   Stevenson, Brian ^c   Superti Furga, Andrea ^a   more..

^a LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^b ERICH SCHMID INSTITUTE OF MATERIALS SCIENCE   (Austria)

^c UNIVERSITY OF LAUSANNE   (Switzerland)

^d FONDAZIONE IRCCS CA GRANDA OSPEDALE MAGGIORE POLICLINICO   (Italy)

^e KAROLINSKA INSTITUTE   (Sweden)

^f UNIVERSITY OF FREIBURG   (Germany)

^g UNIVERSITY OF PARMA   (Italy)

^h AMRITA INSTITUTE OF MEDICAL SCIENCES   (India)

ⁱ TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^j OSPEDALE NIGUARDA CA GRANDA   (Italy)

^k HOSPITAL CLÍNICO UNIVERSIDAD DE CHILE   (Chile)

^l HIROSHIMA UNIVERSITY   (Japan)

^m UNIVERSITY OF LAUSANNE   (Switzerland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

FAM 111 A PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BONE DEVELOPMENT; BONE GROWTH; CALCIUM HOMEOSTASIS; CHILD; CLINICAL ARTICLE; FAM 111 A GENE; FEMALE; GENE; GENE CLUSTER; GENE MUTATION; GENETIC DISORDER; HETEROZYGOTE; HORMONE SYNTHESIS; HUMAN; HYPOPARATHYROIDISM; INFANT; KENNY CAFFEY SYNDROME; MALE; NEWBORN; OSTEOCRANIOSTENOSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SKELETON MALFORMATION; VIRUS REPLICATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; BONE DISEASES, DEVELOPMENTAL; CHILD; CRANIOFACIAL ABNORMALITIES; DWARFISM; GENETIC ASSOCIATION STUDIES; HETEROZYGOTE; HUMANS; HYPEROSTOSIS, CORTICAL, CONGENITAL; HYPOCALCEMIA; HYPOPARATHYROIDISM; INFANT; INFANT, NEWBORN; MALE; MUTATION, MISSENSE; PARATHYROID HORMONE; RECEPTORS, VIRUS;

EID: 84878878820     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.04.020     Document Type: Article

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