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Items: 1 to 20 of 105

1.

[Camptomelic dysplasia--a case report].

Kos R, Medjo B, Grković S, Nikolić D, Sajić S, Ilić J.

Srp Arh Celok Lek. 2007 May-Jun;135(5-6):335-8. Serbian.

2.

Camptomelic dysplasia: report of one case.

Tsao PN, Teng RJ, Hwu WL, Tsou Yau KI, Wang TR.

Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi. 1996 Sep-Oct;37(5):381-3.

PMID:
8942036
3.

Camptomelic dysplasia with sex reversal.

Banu NA, Khatoon S, Qadir E, Rahman MM, Khan MA, Islam MZ, Shameem M.

Mymensingh Med J. 2005 Jan;14(1):80-3.

PMID:
15695962
4.

Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal.

Hsiao HP, Tsai LP, Chao MC, Tseng HI, Chang YC.

J Formos Med Assoc. 2006 Dec;105(12):1013-6.

5.

[Prenatal diagnosis of camptomelic dysplasia: a case report].

Coutinho T, Coutinho CM, Coutinho LM.

Rev Bras Ginecol Obstet. 2008 May;30(5):257-60. Portuguese.

6.
7.

New form of platyspondylic lethal chondrodysplasia.

Akaba K, Nishimura G, Hashimoto M, Wakabayashi T, Kanasugi H, Hayasaka K.

Am J Med Genet. 1996 Dec 30;66(4):464-7.

PMID:
8989469
8.

Variable expression of campomelic dysplasia in a father and his 46, XY daughter.

Savarirayan R, Robertson SP, Bankier A, Rogers JG.

Pediatr Pathol Mol Med. 2003 Jan-Feb;22(1):37-46.

PMID:
12687888
9.

de la Chapelle dysplasia.

Whitley CB, Burke BA, Granroth G, Gorlin RJ.

Am J Med Genet. 1986 Sep;25(1):29-39.

PMID:
3799721
10.

A case of campomelic dysplasia without sex reversal.

Kim HY, Yoon CH, Kim GH, Yoo HW, Lee BS, Kim KS, Kim EA.

J Korean Med Sci. 2011 Jan;26(1):143-5. doi: 10.3346/jkms.2011.26.1.143. Epub 2010 Dec 22.

11.

A new lethal autosomal recessive skeletal dysplasia with associated dysmorphic features.

Morton JE, Kilby MD, Rushton I.

Clin Dysmorphol. 1998 Apr;7(2):109-14.

PMID:
9571280
12.

A case of acampomelic campomelic dysplasia.

Ozkilic A, Seven M, Yuksel A.

Genet Couns. 2002;13(1):23-8.

PMID:
12017234
13.

Clinical and molecular characterization of a Brazilian cohort of campomelic dysplasia patients, and identification of seven new SOX9 mutations.

Mattos EP, Sanseverino MT, Magalhães JA, Leite JC, Félix TM, Todeschini LA, Cavalcanti DP, Schüler-Faccini L.

Genet Mol Biol. 2015 Mar;38(1):14-20. doi: 10.1590/S1415-475738120140147. Epub 2014 Mar 17.

14.

Orthopaedic manifestations of campomelic dysplasia.

Khoshhal K, Letts RM.

Clin Orthop Relat Res. 2002 Aug;(401):65-74. Review.

PMID:
12151884
15.

Atelosteogenesis.

Maroteaux P, Spranger J, Stanescu V, Le Marec B, Pfeiffer RA, Beighton P, Mattei JF.

Am J Med Genet. 1982 Sep;13(1):15-25.

PMID:
7137218
16.

Dental abnormalities associated with campomelic syndrome: case report.

Roberts GL, Beiraghi S.

Pediatr Dent. 1989 Mar;11(1):43-6.

PMID:
2626339
17.
18.
19.

Congenital glaucoma, limb deformities, skeletal dysplasia, and facial anomalies: report of another family.

Mégarbané A, Tomey K, Wakim G.

Am J Med Genet. 1997 Nov 28;73(1):67-71.

PMID:
9375925
20.

A case report of acampomelic campomelic dysplasia and operative difficulties in cleft palate reconstruction.

Pasupathy M, Radhakrishnan V, Adenwalla HS, Narayanan PV.

Indian J Plast Surg. 2016 May-Aug;49(2):253-257.

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