Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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Blomstrand-Chondrodysplasie

Blomstrand-Chondrodysplasie ist eine autosomal rezessive Erkrankung, die durch inaktivierende Mutationen im PTHR1-Gen hervorgerufen wird. Die Betroffenen sterben kurz nach der Geburt mit schweren Fehlbildungen des Skelettsystems.

Gliederung

Knochendysplasie
Achondroplasie
Achondroplasie-SCID-Syndrom
Akro-capito-femorale Dysplasie
Antley-Bixler-Syndrom 1
Antley-Bixler-Syndrom 2
Apert-Syndrom
Blomstrand-Chondrodysplasie
PTH1R
Cherubismus
Chondrodysplasie
Crouzon-Syndrom
Eiken-Syndrom
McCune-Albright-Syndrom
Muenke-Syndrom
Murk-Jansen metaphyseale Chondrodysplasie
Osteofibröse dysplasie
Osteopathia striata mit kranialer Sklerose
Schimke-Dysplasie
Thanatophore Dysplasie 1
Thanatophore Dysplasie 2
Zahnbildungsstörungen

Referenzen:

1.

Blomstrand S et al. (1985) A case of lethal congenital dwarfism with accelerated skeletal maturation.

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2.

Loshkajian A et al. (1997) Familial Blomstrand chondrodysplasia with advanced skeletal maturation: further delineation.

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3.

Jobert AS et al. (1998) Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.

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4.

Zhang P et al. (1998) A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia.

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5.

Hoogendam J et al. (2007) Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II.

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6.

Wysolmerski JJ et al. (2001) Absence of functional type 1 parathyroid hormone (PTH)/PTH-related protein receptors in humans is associated with abnormal breast development and tooth impaction.

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7.

Young ID et al. (1993) A lethal skeletal dysplasia with generalised sclerosis and advanced skeletal maturation: Blomstrand chondrodysplasia?

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8.

den Hollander NS et al. (1997) First-trimester diagnosis of Blomstrand lethal osteochondrodysplasia.

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9.

Oostra RJ et al. (2000) Blomstrand osteochondrodysplasia: three novel cases and histological evidence for heterogeneity.

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10.

OMIM.ORG article

Omim 215045 external link
Update: 14. August 2020
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