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Items: 13

1.

Novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita in three unrelated Chinese families.

Liu L, Pang Q, Jiang Y, Li M, Wang O, Xia W.

Eur Spine J. 2016 Sep;25(9):2967-74. doi: 10.1007/s00586-016-4559-4. Epub 2016 Apr 8. Review.

PMID:
27059630
2.

Spinal Cord Injury After Extremity Surgery in Children With Thoracic Kyphosis.

Pruszczynski B, Mackenzie WG, Rogers K, White KK.

Clin Orthop Relat Res. 2015 Oct;473(10):3315-20. doi: 10.1007/s11999-015-4437-0. Epub 2015 Aug 5. Review.

3.

Review of cervical spine anomalies in genetic syndromes.

McKay SD, Al-Omari A, Tomlinson LA, Dormans JP.

Spine (Phila Pa 1976). 2012 Mar 1;37(5):E269-77. doi: 10.1097/BRS.0b013e31823b3ded. Review.

PMID:
22045003
4.

Surgical treatment for atlantoaxial subluxation with myelopathy in spondyloepiphyseal dysplasia congenita.

Miyoshi K, Nakamura K, Haga N, Mikami Y.

Spine (Phila Pa 1976). 2004 Nov 1;29(21):E488-91. Review.

PMID:
15507788
5.

Double heterozygosity in bone growth disorders: four new observations and review.

Flynn MA, Pauli RM.

Am J Med Genet A. 2003 Sep 1;121A(3):193-208. Review.

PMID:
12923858
6.

[Spondyloepiphyseal dysplasia congenita].

Nishimura G.

Ryoikibetsu Shokogun Shirizu. 2001;(34 Pt 2):688-9. Review. Japanese. No abstract available.

PMID:
11528966
7.

[Osteochondrodysplasia determined genetically by a collagen type II gene mutation].

Czarny-Ratajczak M, Rogala P, Wolnik-Brzozowska D, Latos-Bieleńska A.

Chir Narzadow Ruchu Ortop Pol. 2001;66(1):79-86. Review. Polish.

PMID:
11481990
8.

A case report of spondyloepiphyseal dysplasia congenita.

Gembun Y, Nakayama Y, Shirai Y, Miyamoto M, Sawaizumi T, Kitamura S.

J Nippon Med Sch. 2001 Apr;68(2):186-9. Review.

9.

Cardiac malformation in two infants with hypochondrogenesis.

Potocki L, Abuelo DN, Oyer CE.

Am J Med Genet. 1995 Nov 20;59(3):295-9. Review.

PMID:
8599352
10.

[Osteoarthritis of rare etiology].

Laoussadi S, Menkès CJ.

Rev Rhum Ed Fr. 1994 Nov 15;61(9 Pt 2):116S-123S. Review. French.

PMID:
7858607
11.

The type II collagenopathies: a spectrum of chondrodysplasias.

Spranger J, Winterpacht A, Zabel B.

Eur J Pediatr. 1994 Feb;153(2):56-65. Review.

PMID:
8157027
12.

Collagen, genes and the skeletal dysplasias on the edge of a new era: a review and update.

Lachman RS, Tiller GE, Graham JM Jr, Rimoin DL.

Eur J Radiol. 1992 Jan-Feb;14(1):1-10. Review.

PMID:
1563395
13.

Spinal deformity in short-stature syndromes.

Tolo VT.

Instr Course Lect. 1990;39:399-405. Review.

PMID:
2186130

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