Lethal/severe osteogenesis imperfecta in a large family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings

Fleur S. Van Dijk; Peter G.J. Nikkels; Nicolette S. Den Hollander; Isabel M. Nesbitt; Rick R. Van Rijn; Jan M. Cobben; Gerard Pals

doi:10.2350/10-03-0806-CR.1

Lethal/severe osteogenesis imperfecta in a large family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings

Fleur S. Van Dijk, Peter G.J. Nikkels, Nicolette S. Den Hollander, Isabel M. Nesbitt, Rick R. Van Rijn, Jan M. Cobben, Gerard Pals

Onderzoeksoutput: Bijdrage aan tijdschrift › Artikel › peer review

22 Citaten (Scopus)

Samenvatting

We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (OI) due to a novel homozygous LEPRE1 mutation. In one affected individual histological studies of bone tissue were performed, which may indicate that the histology of LEPRE1-associated OI is indistinguishable from COL1A1/2-, CRTAP-, and PPIB-related OI.

Originele taal-2	Engels
Pagina's (van-tot)	228-234
Aantal pagina's	7
Tijdschrift	Pediatric and Developmental Pathology
Volume	14
Nummer van het tijdschrift	3
DOI's	https://doi.org/10.2350/10-03-0806-CR.1
Status	Gepubliceerd - mei 2011
Extern gepubliceerd	Ja

Toegang tot document

10.2350/10-03-0806-CR.1

Citeer dit

@article{f30f6560425a427e8a013b88f48657cf,

title = "Lethal/severe osteogenesis imperfecta in a large family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings",

abstract = "We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (OI) due to a novel homozygous LEPRE1 mutation. In one affected individual histological studies of bone tissue were performed, which may indicate that the histology of LEPRE1-associated OI is indistinguishable from COL1A1/2-, CRTAP-, and PPIB-related OI.",

keywords = "Collagen type I, CRTAP, Histology, LEPRE1, Osteogenesis imperfecta, PPIB",

author = "\{Van Dijk\}, \{Fleur S.\} and Nikkels, \{Peter G.J.\} and \{Den Hollander\}, \{Nicolette S.\} and Nesbitt, \{Isabel M.\} and \{Van Rijn\}, \{Rick R.\} and Cobben, \{Jan M.\} and Gerard Pals",

year = "2011",

month = may,

doi = "10.2350/10-03-0806-CR.1",

language = "English",

volume = "14",

pages = "228--234",

journal = "Pediatric and Developmental Pathology",

issn = "1093-5266",

publisher = "SAGE Publications Inc.",

number = "3",

}

TY - JOUR

T1 - Lethal/severe osteogenesis imperfecta in a large family

T2 - A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings

AU - Van Dijk, Fleur S.

AU - Nikkels, Peter G.J.

AU - Den Hollander, Nicolette S.

AU - Nesbitt, Isabel M.

AU - Van Rijn, Rick R.

AU - Cobben, Jan M.

AU - Pals, Gerard

PY - 2011/5

Y1 - 2011/5

N2 - We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (OI) due to a novel homozygous LEPRE1 mutation. In one affected individual histological studies of bone tissue were performed, which may indicate that the histology of LEPRE1-associated OI is indistinguishable from COL1A1/2-, CRTAP-, and PPIB-related OI.

AB - We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (OI) due to a novel homozygous LEPRE1 mutation. In one affected individual histological studies of bone tissue were performed, which may indicate that the histology of LEPRE1-associated OI is indistinguishable from COL1A1/2-, CRTAP-, and PPIB-related OI.

KW - Collagen type I

KW - CRTAP

KW - Histology

KW - LEPRE1

KW - Osteogenesis imperfecta

KW - PPIB

UR - https://www.scopus.com/pages/publications/80054025010

U2 - 10.2350/10-03-0806-CR.1

DO - 10.2350/10-03-0806-CR.1

M3 - Article

C2 - 20946018

AN - SCOPUS:80054025010

SN - 1093-5266

VL - 14

SP - 228

EP - 234

JO - Pediatric and Developmental Pathology

JF - Pediatric and Developmental Pathology

IS - 3

ER -

Lethal/severe osteogenesis imperfecta in a large family: A Novel Homozygous LEPRE1 Mutation and Bone Histological Findings

Samenvatting

Toegang tot document

Vingerafdruk

Citeer dit