A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking-Reference-Cited by-同舟云学术

A novel mutation in DDR2 causing spondylo-meta-epiphyseal dysplasia with short limbs and abnormal calcifications (SMED-SL) results in defective intra-cellular trafficking

Published:2014-04-11 Issue:1 Volume:15 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Al-Kindi Adila,Kizhakkedath Praseetha,Xu Huifang,John Anne,Sayegh Abeer Al,Ganesh Anuradha,Al-Awadi Maha,Al-Anbouri Lamya,Al-Gazali Lihadh,Leitinger Birgit,Ali Bassam R

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/1471-2350-15-42.pdf

Reference46 articles.

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2. Langer LO, Wolfson BJ, Scott CI, Reid CS, Schidlow DV, Millar EA, Borns PF, Lubicky JP, Carpenter BL: Further delineation of spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type, with emphasis on diagnostic features. Am J Med Genet. 1993, 45: 488-500. 10.1002/ajmg.1320450419.

3. Smithson SF, Grier D, Hall CM: Spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. Clin Dysmorphol. 2009, 18: 31-35. 10.1097/MCD.0b013e3283189762.

4. Al-Gazali LI, Bakalinova D, Sztriha L: Spondylo-meta-epiphyseal dysplasia, short limb, abnormal calcification type. Clin Dysmorphol. 1996, 5: 197-206.

5. Dias C, Cairns R, Patel MS: Sudden death in spondylo-meta-epiphyseal dysplasia, short limb-abnormal calcification type. Clin Dysmorphol. 2009, 18: 25-29. 10.1097/MCD.0b013e3283186907.

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