Recessive mutations in PTHR1 cause constrasting skeletal dysplasias in Eiken and Blomstrand syndromes

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Recessive mutations in PTHR1 cause constrasting skeletal dysplasias in Eiken and Blomstrand syndromes. / Duchatelet, Sabine; Ostergaard, Elsebet; Cortes, Dina; Lemainque, Arnaud; Julier, Cécile.

In: Human Molecular Genetics, Vol. 14, No. 1, 01.01.2005, p. 1-5.

Research output: Contribution to journal › Journal article › Research › peer-review

Harvard

Duchatelet, S, Ostergaard, E, Cortes, D, Lemainque, A & Julier, C 2005, 'Recessive mutations in PTHR1 cause constrasting skeletal dysplasias in Eiken and Blomstrand syndromes', Human Molecular Genetics, vol. 14, no. 1, pp. 1-5. https://doi.org/10.1093/hmg/ddi001

APA

Duchatelet, S., Ostergaard, E., Cortes, D., Lemainque, A., & Julier, C. (2005). Recessive mutations in PTHR1 cause constrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Human Molecular Genetics, 14(1), 1-5. https://doi.org/10.1093/hmg/ddi001

Vancouver

Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C. Recessive mutations in PTHR1 cause constrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Human Molecular Genetics. 2005 Jan 1;14(1):1-5. https://doi.org/10.1093/hmg/ddi001

Author

Duchatelet, Sabine ; Ostergaard, Elsebet ; Cortes, Dina ; Lemainque, Arnaud ; Julier, Cécile. / Recessive mutations in PTHR1 cause constrasting skeletal dysplasias in Eiken and Blomstrand syndromes. In: Human Molecular Genetics. 2005 ; Vol. 14, No. 1. pp. 1-5.

Bibtex

@article{b00edb559d3946a2b822fff0c2981d7f,
title = "Recessive mutations in PTHR1 cause constrasting skeletal dysplasias in Eiken and Blomstrand syndromes",
abstract = "Eiken syndrome is a rare autosomal recessive skeletal dysplasia. We identified a truncation mutation in the C-terminal cytoplasmic tail of the parathyroid hormone (PTH)/PTH-related peptide (PTHrP) type 1 receptor (PTHR1) gene as the cause of this syndrome. Eiken syndrome differs from Jansen and Blomstrand chondrodysplasia and from enchondromatosis, which are all syndromes caused by PTHR1 mutations. Notably, the skeletal features are opposite to those in Blomstrand chondrodysplasia, which is caused by inactivating recessive mutations in PTHR1. To our knowledge, this is the first description of opposite manifestations resulting from distinct recessive mutations in the same gene.",
author = "Sabine Duchatelet and Elsebet Ostergaard and Dina Cortes and Arnaud Lemainque and C{\'e}cile Julier",
year = "2005",
month = jan,
day = "1",
doi = "10.1093/hmg/ddi001",
language = "English",
volume = "14",
pages = "1--5",
journal = "Human Molecular Genetics",
issn = "0964-6906",
publisher = "Oxford University Press",
number = "1",

}

RIS

TY - JOUR

T1 - Recessive mutations in PTHR1 cause constrasting skeletal dysplasias in Eiken and Blomstrand syndromes

AU - Duchatelet, Sabine

AU - Ostergaard, Elsebet

AU - Cortes, Dina

AU - Lemainque, Arnaud

AU - Julier, Cécile

PY - 2005/1/1

Y1 - 2005/1/1

N2 - Eiken syndrome is a rare autosomal recessive skeletal dysplasia. We identified a truncation mutation in the C-terminal cytoplasmic tail of the parathyroid hormone (PTH)/PTH-related peptide (PTHrP) type 1 receptor (PTHR1) gene as the cause of this syndrome. Eiken syndrome differs from Jansen and Blomstrand chondrodysplasia and from enchondromatosis, which are all syndromes caused by PTHR1 mutations. Notably, the skeletal features are opposite to those in Blomstrand chondrodysplasia, which is caused by inactivating recessive mutations in PTHR1. To our knowledge, this is the first description of opposite manifestations resulting from distinct recessive mutations in the same gene.

AB - Eiken syndrome is a rare autosomal recessive skeletal dysplasia. We identified a truncation mutation in the C-terminal cytoplasmic tail of the parathyroid hormone (PTH)/PTH-related peptide (PTHrP) type 1 receptor (PTHR1) gene as the cause of this syndrome. Eiken syndrome differs from Jansen and Blomstrand chondrodysplasia and from enchondromatosis, which are all syndromes caused by PTHR1 mutations. Notably, the skeletal features are opposite to those in Blomstrand chondrodysplasia, which is caused by inactivating recessive mutations in PTHR1. To our knowledge, this is the first description of opposite manifestations resulting from distinct recessive mutations in the same gene.

UR - http://www.scopus.com/inward/record.url?scp=12344338238&partnerID=8YFLogxK

U2 - 10.1093/hmg/ddi001

DO - 10.1093/hmg/ddi001

M3 - Journal article

C2 - 15525660

AN - SCOPUS:12344338238

VL - 14

SP - 1

EP - 5

JO - Human Molecular Genetics

JF - Human Molecular Genetics

SN - 0964-6906

IS - 1

ER -

ID: 236898283