0MIM 313400: Spondyloepiphyseal dysplasia tarda

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Topic: 0MIM 313400: Spondyloepiphyseal dysplasia tarda

DIAG Editor
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posted 10-21-1999 05:34 PM

We have recently identified the SEDL gene causing spondyloepiphyseal dysplasia tarda (Late-onset) - MIM 313400, Gedeon et al Nature Genetics Aug '99. We would like to welcome new clinical/laboratory collaborators for the purpose of identifying the mutations in additional families . We are also looking for additional families with bilateral osteoarthritis conforming to an X-linked mode of inheritance.
We would be pleased to discuss alternative possibilities in the molecular genetic analysis of autosomal SEDL families that have been shown not to have collagen mutations.

If you have seen/ know of any such families, please do not hesitate to contact us. Written informed consent is needed for each participant.

Looking forward to fruitful collaborations.

Yours Sincerely,
Agi Gedeon Ph.D.

Dr. Agi K. Gedeon,
Senior Hospital Scientist,
Department of Cytogenetics and Molecular Genetics,
Women's and Children's Hospital,
North Adelaide, SA 5006.

email: agedeon@mad.adelaide.edu.au
phone: int + 8 8204 7023
fax: int + 8 8204 7342

IP: 160.45.191.21

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