title: The Finnish founder mutation c.70 A>G in RMRP causes cartilage-hair hypoplasia in a Pakistani family.
authors.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.
authors.forename: Muddassar
authors.initials: M
authors.lastname: Iqbal
authors.forename: Niaz
authors.initials: N
authors.lastname: Muhammad
authors.forename: Sheikh A
authors.initials: SA
authors.lastname: Ali
authors.forename: Svetlana
authors.initials: S
authors.lastname: Kostjukovits
authors.forename: Outi
authors.initials: O
authors.lastname: Mäkitie
authors.forename: Sadaf
authors.initials: S
authors.lastname: Naz
mesh_terms: D000328:Adult; D000483:Alleles; D003241:Consanguinity; D004252:DNA Mutational Analysis; D005387:Finland; D018703:Founder Effect; D006197:Hair / Q000002:abnormalities*; D006627:Hirschsprung Disease / Q000175:diagnosis* / Q000235:genetics*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics; D010154:Pakistan; D010375:Pedigree; D010641:Phenotype; D000081207:Primary Immunodeficiency Diseases; D062085:RNA, Long Noncoding / Q000235:genetics*; D011859:Radiography
chemical_list: C544035:RMRP non-coding RNA, human; D062085:RNA, Long Noncoding