Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia

Journal of Human Genetics

Volumn 62, Issue 3, 2017, Pages 437-441

  Guo, Long ^a   Girisha, Katta M ^b   Iida, Aritoshi ^a   Hebbar, Malavika ^b   Shukla, Anju ^b   Shah, Hitesh ^c   Nishimura, Gen ^d   Matsumoto, Naomichi ^e   Nismath, Shifa ^b   Miyake, Noriko ^e   Ikegawa, Shiro ^a  

^a Institute of Physical and Chemical Research   (Japan)

^b KASTURBA MEDICAL COLLEGE   (India)

^c MANIPAL UNIVERSITY   (India)

^d TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^e YOKOHAMA CITY UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; LRRK1 PROTEIN, HUMAN; PROTEIN SERINE THREONINE KINASE;

ACROOSTEOLYSIS; ADOLESCENT; ADULT; ARTICLE; BONE DYSPLASIA; CASE REPORT; CHILD; DENTIN; ENAMEL HYPOPLASIA; FACE DYSMORPHIA; FEMALE; FLATFOOT; FRACTURE; GENE MUTATION; HAND RADIOGRAPHY; HEPATOMEGALY; HOMOZYGOSITY; HUMAN; HUMAN GENOME; INDIAN; LEUCINE RICH REPEAT KINASE 1 GENE; MALE; METAPHYSIS; OSTEOSCLEROSIS; OSTEOSCLEROTIC METAPHYSEAL DYSPLASIA; PELVIS RADIOGRAPHY; PRESCHOOL CHILD; RECURRENT DISEASE; SIBLING; SPINE RADIOGRAPHY; TOOTH MALFORMATION; ACRO-OSTEOLYSIS; FRACTURES, BONE; GENE EXPRESSION; GENETICS; HOMOZYGOTE; INDIA; METABOLISM; MUTATION; OSTEOCHONDRODYSPLASIAS; PATHOLOGY; SPINE;

ACRO-OSTEOLYSIS; ADOLESCENT; ADULT; FEMALE; FRACTURES, BONE; GENE EXPRESSION; HOMOZYGOTE; HUMANS; INDIA; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; OSTEOSCLEROSIS; PROTEIN-SERINE-THREONINE KINASES; RECURRENCE; SIBLINGS; SPINE;

EID: 85014036903     PISSN: 14345161     EISSN: 1435232X     Source Type: Journal    
DOI: 10.1038/jhg.2016.136     Document Type: Article

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