Total: 2 |
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PMID (PMCID) | ||
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25007883 |
MIXED_SAMPLE | |
A new acro-osteolysis syndrome caused by duplications including PTHLH. | ||
Gray MJ, van Kogelenberg M, Beddow R, Morgan T, Wordsworth P, Shears DJ, Robertson SP, Hurst JA. J Hum Genet. 2014;59(9):484-7. |
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Mutations and copy number imbalances of the PTHLH locus and in the gene encoding its receptor, PTHR1, result in a variety of skeletal dysplasias including brachydactyly type E, Eiken syndrome, Jansen metaphyseal chondrodysplasia and Blomstrand type chondrodysplasia. | ||
15525660 |
MIXED_SAMPLE | |
Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. | ||
Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C. Hum Mol Genet. 2005;14(1):1-5. |
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Eiken syndrome is a rare autosomal recessive skeletal dysplasia. |