Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: First confirmation of a duplication in RUNX2 as pathogenic variant

Kristiina Avela; Helja Hirvinen; Mouna Ben Amor; Frank Rauch

doi:10.1016/j.ejmg.2014.09.010

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: First confirmation of a duplication in RUNX2 as pathogenic variant

Kristiina Avela, Helja Hirvinen, Mouna Ben Amor, Frank Rauch

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

Alkuperäiskieli	englanti
Lehti	European Journal of Medical Genetics
Vuosikerta	57
Numero	11-12
Sivut	617-620
Sivumäärä	4
ISSN	1769-7212
DOI - pysyväislinkit	https://doi.org/10.1016/j.ejmg.2014.09.010
Tila	Julkaistu - 2014
OKM-julkaisutyyppi	A1 Alkuperäisartikkeli tieteellisessä aikakauslehdessä, vertaisarvioitu

Tieteenalat

3111 Biolääketieteet

Pääsy asiakirjaan

10.1016/j.ejmg.2014.09.010

Siteeraa tätä

@article{4bf7977dec4f4ebd96e9d1931c111fdc,

title = "Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: First confirmation of a duplication in RUNX2 as pathogenic variant",

keywords = "Brachydactyly, Finland, Maxillary hypoplasia, Metaphyseal dysplasia, RUNX2, CLEIDOCRANIAL DYSPLASIA, MUTATIONS, 3111 Biomedicine",

author = "Kristiina Avela and Helja Hirvinen and {Ben Amor}, Mouna and Frank Rauch",

year = "2014",

doi = "10.1016/j.ejmg.2014.09.010",

language = "English",

volume = "57",

pages = "617--620",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

publisher = "Elsevier Masson s.r.l.",

number = "11-12",

}

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman: First confirmation of a duplication in RUNX2 as pathogenic variant. / Avela, Kristiina; Hirvinen, Helja; Ben Amor, Mouna et al.
julkaisussa: European Journal of Medical Genetics, Vuosikerta 57, Nro 11-12, 2014, s. 617-620.

Tutkimustuotos: Artikkelijulkaisu › Artikkeli › Tieteellinen › vertaisarvioitu

TY - JOUR

T1 - Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly in a Finnish woman

T2 - First confirmation of a duplication in RUNX2 as pathogenic variant

AU - Avela, Kristiina

AU - Hirvinen, Helja

AU - Ben Amor, Mouna

AU - Rauch, Frank

PY - 2014

Y1 - 2014

KW - Brachydactyly

KW - Finland

KW - Maxillary hypoplasia

KW - Metaphyseal dysplasia

KW - RUNX2

KW - CLEIDOCRANIAL DYSPLASIA

KW - MUTATIONS

KW - 3111 Biomedicine

U2 - 10.1016/j.ejmg.2014.09.010

DO - 10.1016/j.ejmg.2014.09.010

M3 - Article

SN - 1769-7212

VL - 57

SP - 617

EP - 620

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 11-12

ER -