Axial spondylometaphyseal dysplasia with retinitis pigmentosa-a clinical report and diagnostic clues

Eyal Reinstein; Ericka B. Okenfuss; Isha Wadhawan; Yael Wilnai; Melanie Manning; David L. Rimoin; Ralph S. Lachman

doi:10.1007/s13353-013-0136-2

Axial spondylometaphyseal dysplasia with retinitis pigmentosa-a clinical report and diagnostic clues

Eyal Reinstein, Ericka B. Okenfuss, Isha Wadhawan, Yael Wilnai, Melanie Manning, David L. Rimoin, Ralph S. Lachman

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

Original language	English
Pages (from-to)	231-234
Number of pages	4
Journal	Journal of Applied Genetics
Volume	54
Issue number	2
DOIs	https://doi.org/10.1007/s13353-013-0136-2
State	Published - May 2013
Externally published	Yes

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10.1007/s13353-013-0136-2

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@article{6d2eebece9714593a108a186f6df5017,

title = "Axial spondylometaphyseal dysplasia with retinitis pigmentosa-a clinical report and diagnostic clues",

author = "Eyal Reinstein and Okenfuss, {Ericka B.} and Isha Wadhawan and Yael Wilnai and Melanie Manning and Rimoin, {David L.} and Lachman, {Ralph S.}",

note = "Funding Information: This work was supported, in part, by an NIH Program Project Grant HD22657 and Training Grant (2 T32 GM008243). The authors thank Dr. Yoreh Barak for his helpful comments. ",

year = "2013",

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doi = "10.1007/s13353-013-0136-2",

language = "אנגלית",

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AU - Reinstein, Eyal

AU - Okenfuss, Ericka B.

AU - Wadhawan, Isha

AU - Wilnai, Yael

AU - Manning, Melanie

AU - Rimoin, David L.

AU - Lachman, Ralph S.

N1 - Funding Information: This work was supported, in part, by an NIH Program Project Grant HD22657 and Training Grant (2 T32 GM008243). The authors thank Dr. Yoreh Barak for his helpful comments.

PY - 2013/5

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JO - Journal of Applied Genetics

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SN - 1234-1983

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Axial spondylometaphyseal dysplasia with retinitis pigmentosa-a clinical report and diagnostic clues

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