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The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family.
https://arctichealth.org/en/permalink/ahliterature294744
Source
Clin Dysmorphol. 2017 Apr; 26(2):121-123
Publication Type
Case Reports
Journal Article
Date
Apr-2017
More detail
Author
Muddassar Iqbal
Niaz Muhammad
Sheikh A Ali
Svetlana Kostjukovits
Outi Mäkitie
Sadaf Naz
Author Affiliation
aSchool of Biological Sciences, University of the Punjab, Lahore, Pakistan bChildren's Hospital, Helsinki University Hospital, University of Helsinki cFolkhälsan Institute of Genetics, Helsinki, Finland.
Source
Clin Dysmorphol. 2017 Apr; 26(2):121-123
Date
Apr-2017
Language
English
Publication Type
Case Reports
Journal Article
Keywords
Adult
Alleles
Consanguinity
DNA Mutational Analysis
Finland
Founder Effect
Hair - abnormalities
Hirschsprung Disease - diagnosis - genetics
Humans
Immunologic Deficiency Syndromes - diagnosis - genetics
Male
Mutation
Osteochondrodysplasias - congenital - diagnosis - genetics
Pakistan
Pedigree
Phenotype
RNA, Long Noncoding - genetics
Radiography
PubMed ID
27740950
View in PubMed
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