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Items: 6

1.

Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review.

Reyes-Hernández OD, Palacios-Reyes C, Chávez-Ocaña S, Cortés-Malagón EM, Alonso-Themann PG, Ramos-Cano V, Ramírez-Bello J, Sierra-Martínez M.

BMC Musculoskelet Disord. 2016 Feb 15;17:79. doi: 10.1186/s12891-016-0935-9. Review.

2.

ADAMTS proteins as modulators of microfibril formation and function.

Hubmacher D, Apte SS.

Matrix Biol. 2015 Sep;47:34-43. doi: 10.1016/j.matbio.2015.05.004. Epub 2015 May 7. Review.

3.

Children with short-limbed short stature in pediatric endocrinological services in Japan.

Hasegawa K, Tanaka H.

Pediatr Int. 2014 Dec;56(6):809-812. doi: 10.1111/ped.12511. Epub 2014 Nov 28. Review.

PMID:
25244068
4.

From tall to short: the role of TGFβ signaling in growth and its disorders.

Le Goff C, Cormier-Daire V.

Am J Med Genet C Semin Med Genet. 2012 Aug 15;160C(3):145-53. doi: 10.1002/ajmg.c.31337. Epub 2012 Jul 12. Review.

PMID:
22791552
5.

Genetic and molecular aspects of acromelic dysplasia.

Le Goff C, Cormier-Daire V.

Pediatr Endocrinol Rev. 2009 Mar;6(3):418-23. Review.

PMID:
19396027
6.

[Acromicric dysplasia].

Nakamura M.

Ryoikibetsu Shokogun Shirizu. 2001;(33):141. Review. Japanese. No abstract available.

PMID:
11462371

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