PubMed (OMIM) for id: 176

Year	Number of Results
1951	1
1955	2
1957	1
1964	1
1967	1
1976	1
1978	2
1979	2
1980	1
1981	2
1985	1
1989	1
1990	1
1991	1
1993	2
1994	1
1995	1
1997	1
1999	1
2002	1
2004	1
2005	1
2007	2
2008	2
2009	1
2010	1
2011	1
2014	1
2015	1
2017	3
2019	1
2024	0

1

The second report on spondyloepimetaphyseal dysplasia, aggrecan type: a milder phenotype than originally reported.

Fukuhara Y, Cho SY, Miyazaki O, Hattori A, Seo JH, Mashima R, Kosuga M, Fukami M, Jin DK, Okuyama T, Nishimura G. Fukuhara Y, et al. Clin Dysmorphol. 2019 Jan;28(1):26-29. doi: 10.1097/MCD.0000000000000241. Clin Dysmorphol. 2019. PMID: 30124491 Free PMC article. No abstract available.

2

Identification of a novel heterozygous mutation of the Aggrecan gene in a family with idiopathic short stature and multiple intervertebral disc herniation.

Dateki S, Nakatomi A, Watanabe S, Shimizu H, Inoue Y, Baba H, Yoshiura KI, Moriuchi H. Dateki S, et al. J Hum Genet. 2017 Jul;62(7):717-721. doi: 10.1038/jhg.2017.33. Epub 2017 Mar 23. J Hum Genet. 2017. PMID: 28331218

3

Clinical Characterization of Patients With Autosomal Dominant Short Stature due to Aggrecan Mutations.

Gkourogianni A, Andrew M, Tyzinski L, Crocker M, Douglas J, Dunbar N, Fairchild J, Funari MF, Heath KE, Jorge AA, Kurtzman T, LaFranchi S, Lalani S, Lebl J, Lin Y, Los E, Newbern D, Nowak C, Olson M, Popovic J, Pruhová Š, Elblova L, Quintos JB, Segerlund E, Sentchordi L, Shinawi M, Stattin EL, Swartz J, Angel AG, Cuéllar SD, Hosono H, Sanchez-Lara PA, Hwa V, Baron J, Nilsson O, Dauber A. Gkourogianni A, et al. J Clin Endocrinol Metab. 2017 Feb 1;102(2):460-469. doi: 10.1210/jc.2016-3313. J Clin Endocrinol Metab. 2017. PMID: 27870580 Free PMC article.

4

ACAN Gene Mutations in Short Children Born SGA and Response to Growth Hormone Treatment.

van der Steen M, Pfundt R, Maas SJWH, Bakker-van Waarde WM, Odink RJ, Hokken-Koelega ACS. van der Steen M, et al. J Clin Endocrinol Metab. 2017 May 1;102(5):1458-1467. doi: 10.1210/jc.2016-2941. J Clin Endocrinol Metab. 2017. PMID: 27710243

5

Idiopathic short stature due to novel heterozygous mutation of the aggrecan gene.

Quintos JB, Guo MH, Dauber A. Quintos JB, et al. J Pediatr Endocrinol Metab. 2015 Jul;28(7-8):927-32. doi: 10.1515/jpem-2014-0450. J Pediatr Endocrinol Metab. 2015. PMID: 25741789 Free PMC article.

6

Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations.

Nilsson O, Guo MH, Dunbar N, Popovic J, Flynn D, Jacobsen C, Lui JC, Hirschhorn JN, Baron J, Dauber A. Nilsson O, et al. J Clin Endocrinol Metab. 2014 Aug;99(8):E1510-8. doi: 10.1210/jc.2014-1332. Epub 2014 Apr 24. J Clin Endocrinol Metab. 2014. PMID: 24762113 Free PMC article.

7

Proteoglycan-specific molecular switch for RPTPσ clustering and neuronal extension.

Coles CH, Shen Y, Tenney AP, Siebold C, Sutton GC, Lu W, Gallagher JT, Jones EY, Flanagan JG, Aricescu AR. Coles CH, et al. Science. 2011 Apr 22;332(6028):484-8. doi: 10.1126/science.1200840. Epub 2011 Mar 31. Science. 2011. PMID: 21454754 Free PMC article.

8

A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans.

Stattin EL, Wiklund F, Lindblom K, Onnerfjord P, Jonsson BA, Tegner Y, Sasaki T, Struglics A, Lohmander S, Dahl N, Heinegård D, Aspberg A. Stattin EL, et al. Am J Hum Genet. 2010 Feb 12;86(2):126-37. doi: 10.1016/j.ajhg.2009.12.018. Epub 2010 Feb 4. Am J Hum Genet. 2010. PMID: 20137779 Free PMC article.

9

A recessive skeletal dysplasia, SEMD aggrecan type, results from a missense mutation affecting the C-type lectin domain of aggrecan.

Tompson SW, Merriman B, Funari VA, Fresquet M, Lachman RS, Rimoin DL, Nelson SF, Briggs MD, Cohn DH, Krakow D. Tompson SW, et al. Am J Hum Genet. 2009 Jan;84(1):72-9. doi: 10.1016/j.ajhg.2008.12.001. Epub 2008 Dec 24. Am J Hum Genet. 2009. PMID: 19110214 Free PMC article.

10

Familial osteochondritis dissecans associated with early osteoarthritis and disproportionate short stature.

Stattin EL, Tegner Y, Domellöf M, Dahl N. Stattin EL, et al. Osteoarthritis Cartilage. 2008 Aug;16(8):890-6. doi: 10.1016/j.joca.2007.11.009. Epub 2008 Jan 15. Osteoarthritis Cartilage. 2008. PMID: 18226555 Free article.

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