PubMed (OMIM) for id: 75672

Year	Number of Results
1959	1
1964	1
1968	2
1970	1
1972	3
1975	1
1976	1
1977	1
1978	1
1979	2
1983	1
1984	1
1985	2
1987	1
1989	3
1992	2
1993	1
1994	4
1995	2
1997	3
1998	4
1999	1
2024	0

1

ARKIN W. ARKIN W. Am J Ophthalmol. 1964 Oct;58:678-82. doi: 10.1016/0002-9394(64)91389-3. Am J Ophthalmol. 1964. PMID: 14218178 No abstract available.

2

Blue sclerotics syndrome simulating buphthaimos.

TUCKER DP. TUCKER DP. Am J Ophthalmol. 1959 Mar;47(3):345-8. doi: 10.1016/s0002-9394(14)76536-5. Am J Ophthalmol. 1959. PMID: 13627089 No abstract available.

3

Prenatal exclusion of Ehlers-Danlos syndrome type VI by mutational analysis.

Yeowell HN, Walker LC. Yeowell HN, et al. Proc Assoc Am Physicians. 1999 Jan-Feb;111(1):57-62. doi: 10.1046/j.1525-1381.1999.09112.x. Proc Assoc Am Physicians. 1999. PMID: 9893157

4

Ehlers-Danlos Syndrome Type VI (EDS VI): problems of diagnosis and management.

Heim P, Raghunath M, Meiss L, Heise U, Myllylä R, Kohlschütter A, Steinmann B. Heim P, et al. Acta Paediatr. 1998 Jun;87(6):708-10. doi: 10.1080/080352598750014184. Acta Paediatr. 1998. PMID: 9686670

5

Ehlers-Danlos syndrome type VI: lysyl hydroxylase deficiency due to a novel point mutation (W612C).

Brinckmann J, Açil Y, Feshchenko S, Katzer E, Brenner R, Kulozik A, Kügler S. Brinckmann J, et al. Arch Dermatol Res. 1998 Apr;290(4):181-6. doi: 10.1007/s004030050287. Arch Dermatol Res. 1998. PMID: 9617436

6

Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK).

Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Beighton P, et al. Am J Med Genet. 1998 Apr 28;77(1):31-7. doi: 10.1002/(sici)1096-8628(19980428)77:1<31::aid-ajmg8>3.0.co;2-o. Am J Med Genet. 1998. PMID: 9557891

7

A compound heterozygote patient with Ehlers-Danlos syndrome type VI has a deletion in one allele and a splicing defect in the other allele of the lysyl hydroxylase gene.

Pousi B, Hautala T, Hyland JC, Schröter J, Eckes B, Kivirikko KI, Myllylä R. Pousi B, et al. Hum Mutat. 1998;11(1):55-61. doi: 10.1002/(SICI)1098-1004(1998)11:1<55::AID-HUMU9>3.0.CO;2-K. Hum Mutat. 1998. PMID: 9450904

8

Ehlers-Danlos syndrome type VI results from a nonsense mutation and a splice site-mediated exon-skipping mutation in the lysyl hydroxylase gene.

Yeowell HN, Walker LC. Yeowell HN, et al. Proc Assoc Am Physicians. 1997 Jul;109(4):383-96. Proc Assoc Am Physicians. 1997. PMID: 9220536

9

Further delineation of Nevo syndrome.

al-Gazali LI, Bakalinova D, Varady E, Scorer J, Nork M. al-Gazali LI, et al. J Med Genet. 1997 May;34(5):366-70. doi: 10.1136/jmg.34.5.366. J Med Genet. 1997. PMID: 9152832 Free PMC article.

10

Duplication of seven exons in the lysyl hydroxylase gene is associated with longer forms of a repetitive sequence within the gene and is a common cause for the type VI variant of Ehlers-Danlos syndrome.

Heikkinen J, Toppinen T, Yeowell H, Krieg T, Steinmann B, Kivirikko KI, Myllylä R. Heikkinen J, et al. Am J Hum Genet. 1997 Jan;60(1):48-56. Am J Hum Genet. 1997. PMID: 8981946 Free PMC article.

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