Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene

Felix G Riepe; Wiebke Ahrens; Nils Krone; Regina Fölster-Holst; Jochen Brasch; Wolfgang G Sippell; Olaf Hiort; Carl-Joachim Partsch

doi:10.1530/eje.1.01879

Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene

Felix G Riepe, Wiebke Ahrens, Nils Krone, Regina Fölster-Holst, Jochen Brasch, Wolfgang G Sippell, Olaf Hiort, Carl-Joachim Partsch

Research output: Contribution to journal › Article › peer-review

34 Citations (Scopus)

Abstract

To clarify the molecular defect for the clinical finding of congenital hypothyroidism combined with the manifestation of calcinosis cutis in infancy.

Original language	English
Pages (from-to)	515-9
Number of pages	5
Journal	European Journal of Endocrinology
Volume	152
Issue number	4
DOIs	https://doi.org/10.1530/eje.1.01879
Publication status	Published - 2005

Access to Document

10.1530/eje.1.01879

Cite this

@article{cbdd28bdef6f49189109613a0cf05c9c,

title = "Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene",

abstract = "To clarify the molecular defect for the clinical finding of congenital hypothyroidism combined with the manifestation of calcinosis cutis in infancy.",

author = "Riepe, {Felix G} and Wiebke Ahrens and Nils Krone and Regina F{\"o}lster-Holst and Jochen Brasch and Sippell, {Wolfgang G} and Olaf Hiort and Carl-Joachim Partsch",

year = "2005",

doi = "10.1530/eje.1.01879",

language = "English",

volume = "152",

pages = "515--9",

journal = "European Journal of Endocrinology",

issn = "0804-4643",

publisher = "BioScientifica",

number = "4",

}

TY - JOUR

T1 - Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene

AU - Riepe, Felix G

AU - Ahrens, Wiebke

AU - Krone, Nils

AU - Fölster-Holst, Regina

AU - Brasch, Jochen

AU - Sippell, Wolfgang G

AU - Hiort, Olaf

AU - Partsch, Carl-Joachim

PY - 2005

Y1 - 2005

N2 - To clarify the molecular defect for the clinical finding of congenital hypothyroidism combined with the manifestation of calcinosis cutis in infancy.

AB - To clarify the molecular defect for the clinical finding of congenital hypothyroidism combined with the manifestation of calcinosis cutis in infancy.

U2 - 10.1530/eje.1.01879

DO - 10.1530/eje.1.01879

M3 - Article

C2 - 15817905

SN - 0804-4643

VL - 152

SP - 515

EP - 519

JO - European Journal of Endocrinology

JF - European Journal of Endocrinology

IS - 4

ER -

Early manifestation of calcinosis cutis in pseudohypoparathyroidism type Ia associated with a novel mutation in the GNAS gene

Abstract

Access to Document

Fingerprint

Cite this