Report of five novel and one recurrentCOL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

Geert R Mortier; MaryAnn Weis; Lieve Nuytinck; Lily M King; Douglas J Wilkin; Anne De Paepe; Ralph S Lachman; David L Rimoin; David R Eyre; Daniel H Cohn

doi:10.1136/jmg.37.4.263

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This article has a correction. Please see:

Correction for vol. 37, p. 263 - October 01, 2000

Original article

Report of five novel and one recurrentCOL2A1 mutations with analysis of genotype-phenotype correlation in patients with a lethal type II collagen disorder

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	Abstract	Full	Pdf
Mar 2000	0	2	0
Apr 2000	24	42	11
May 2000	4	24	14
Jun 2000	2	5	0
Jul 2000	1	7	4
Aug 2000	1	10	3
Sep 2000	1	3	0
Oct 2000	5	17	5
Nov 2000	1	5	4
Dec 2000	1	1	1
Jan 2001	0	16	3
Feb 2001	2	12	8
Mar 2001	2	9	4
Apr 2001	2	10	7
May 2001	0	12	6
Jun 2001	0	13	0
Jul 2001	0	4	3
Aug 2001	0	5	1
Sep 2001	1	6	1
Oct 2001	1	11	3
Nov 2001	1	7	4
Dec 2001	1	6	0
Jan 2002	1	8	9
Feb 2002	6	9	4
Mar 2002	1	1	0
Apr 2002	1	3	0
May 2002	0	5	2
Jun 2002	1	14	10
Jul 2002	1	6	3
Aug 2002	0	19	2
Sep 2002	0	6	0
Oct 2002	2	3	2
Nov 2002	4	13	3
Dec 2002	1	3	1
Jan 2003	2	10	1
Feb 2003	1	9	3
Mar 2003	2	8	4
Apr 2003	0	10	6
May 2003	2	3	0
Jun 2003	2	7	1
Jul 2003	8	34	6
Aug 2003	12	16	8
Sep 2003	12	15	2
Oct 2003	13	15	0
Nov 2003	31	29	6
Dec 2003	13	11	2
Jan 2004	22	66	4
Feb 2004	11	20	4
Mar 2004	37	20	2
Apr 2004	14	17	6
May 2004	43	49	7
Jun 2004	48	48	7
Jul 2004	52	64	8
Aug 2004	34	50	6
Sep 2004	44	51	9
Oct 2004	19	25	9
Nov 2004	16	36	7
Dec 2004	11	34	6
Jan 2005	15	59	14
Feb 2005	11	21	5
Mar 2005	8	20	12
Apr 2005	4	29	9
May 2005	2	22	12
Jun 2005	10	16	11
Jul 2005	5	13	7
Aug 2005	2	16	9
Sep 2005	5	18	9
Oct 2005	6	7	4
Nov 2005	3	10	6
Dec 2005	5	22	6
Jan 2006	7	26	10
Feb 2006	3	13	7
Mar 2006	5	22	11
Apr 2006	7	28	12
May 2006	7	23	10
Jun 2006	2	16	6
Jul 2006	2	12	3
Aug 2006	3	6	1
Sep 2006	3	20	3
Oct 2006	10	17	3
Nov 2006	8	19	8
Dec 2006	7	19	6
Jan 2007	8	28	12
Feb 2007	14	36	9
Mar 2007	8	21	5
Apr 2007	6	3	2
May 2007	10	11	7
Jun 2007	13	3	5
Jul 2007	8	5	6
Aug 2007	10	4	8
Sep 2007	6	5	2
Oct 2007	4	4	4
Nov 2007	17	5	6
Dec 2007	7	2	4
Jan 2008	20	2	8
Feb 2008	15	12	13
Mar 2008	13	3	9
Apr 2008	13	5	6
May 2008	11	3	0
Jun 2008	20	4	6
Jul 2008	23	3	6
Aug 2008	35	4	2
Sep 2008	39	3	3
Oct 2008	28	5	5
Nov 2008	27	3	1
Dec 2008	18	2	2
Jan 2009	15	3	6
Feb 2009	14	1	3
Mar 2009	8	7	8
Apr 2009	4	5	5
May 2009	11	0	7
Jun 2009	15	6	7
Jul 2009	8	0	1
Aug 2009	8	2	1
Sep 2009	13	3	5
Oct 2009	22	3	1
Nov 2009	26	2	1
Dec 2009	10	2	3
Jan 2010	2	3	8
Feb 2010	7	0	0
Mar 2010	7	1	0
Apr 2010	4	3	3
May 2010	13	0	1
Jun 2010	9	3	8
Jul 2010	6	0	0
Aug 2010	9	1	3
Sep 2010	4	6	3
Oct 2010	29	6	2
Nov 2010	10	10	3
Dec 2010	6	3	2
Jan 2011	15	2	0
Feb 2011	13	2	5
Mar 2011	19	7	6
Apr 2011	6	2	1
May 2011	12	1	1
Jun 2011	7	1	1
Jul 2011	7	1	0
Aug 2011	13	2	1
Sep 2011	7	1	3
Oct 2011	4	0	0
Nov 2011	14	7	4
Dec 2011	11	13	5
Jan 2012	4	7	6
Feb 2012	8	11	3
Mar 2012	9	10	6
Apr 2012	4	5	5
May 2012	8	13	3
Jun 2012	4	13	5
Jul 2012	6	19	4
Aug 2012	9	12	4
Sep 2012	13	14	4
Oct 2012	13	24	4
Nov 2012	16	25	0
Dec 2012	7	2	3
Jan 2013	22	14	4
Feb 2013	7	10	3
Mar 2013	6	15	4
Apr 2013	9	12	5
May 2013	23	19	7
Jun 2013	6	2	2
Jul 2013	23	10	9
Aug 2013	6	16	3
Sep 2013	10	15	3
Oct 2013	6	24	8
Nov 2013	7	22	6
Dec 2013	7	14	6
Jan 2014	10	8	6
Feb 2014	1	39	11
Mar 2014	10	32	7
Apr 2014	15	39	9
May 2014	6	29	2
Jun 2014	10	11	2
Jul 2014	13	24	13
Aug 2014	6	19	1
Sep 2014	4	11	3
Oct 2014	3	10	4
Nov 2014	5	12	4
Dec 2014	3	5	2
Jan 2015	7	12	4
Feb 2015	7	3	7
Mar 2015	17	17	7
Apr 2015	9	10	1
May 2015	4	10	2
Jun 2015	8	2	3
Jul 2015	3	17	11
Aug 2015	3	4	6
Sep 2015	10	11	8
Oct 2015	1	10	1
Nov 2015	9	6	3
Dec 2015	10	11	3
Jan 2016	10	17	4
Feb 2016	11	16	4
Mar 2016	4	9	9
Apr 2016	11	9	11
May 2016	3	8	2
Jun 2016	6	3	2
Jul 2016	10	3	4
Aug 2016	10	2	6
Sep 2016	13	1	8
Oct 2016	17	6	5
Nov 2016	12	2	4
Dec 2016	6	6	2
Jan 2017	18	4	10
Feb 2017	1	7	4
Mar 2017	3	8	2
Apr 2017	0	12	3
May 2017	0	18	8
Jun 2017	5	13	2
Jul 2017	13	13	13
Aug 2017	17	17	3
Sep 2017	19	19	5
Oct 2017	16	16	16
Nov 2017	56	52	5
Dec 2017	83	83	14
Jan 2018	110	104	22
Feb 2018	54	48	8
Mar 2018	93	83	9
Apr 2018	43	37	10
May 2018	47	45	4
Jun 2018	32	28	12
Jul 2018	27	23	5
Aug 2018	38	34	13
Sep 2018	35	35	12
Oct 2018	29	29	10
Nov 2018	31	31	5
Dec 2018	49	49	5
Jan 2019	45	41	7
Feb 2019	48	43	8
Mar 2019	28	28	8
Apr 2019	5	5	7
May 2019	7	7	10
Jun 2019	5	5	2
Jul 2019	6	6	9
Aug 2019	3	3	6
Sep 2019	5	5	10
Oct 2019	8	9	8
Nov 2019	10	10	7
Dec 2019	12	12	8
Jan 2020	15	15	7
Feb 2020	5	5	14
Mar 2020	2	2	13
Apr 2020	6	6	21
May 2020	16	15	13
Jun 2020	27	24	6
Jul 2020	10	9	14
Aug 2020	22	20	18
Sep 2020	46	43	14
Oct 2020	18	13	13
Nov 2020	16	16	23
Dec 2020	13	12	8
Jan 2021	13	11	25
Feb 2021	9	9	28
Mar 2021	22	22	24
Apr 2021	5	4	11
May 2021	7	7	23
Jun 2021	12	12	14
Jul 2021	4	4	7
Aug 2021	11	13	20
Sep 2021	9	9	22
Oct 2021	12	12	25
Nov 2021	8	8	21
Dec 2021	14	14	16
Jan 2022	15	16	18
Feb 2022	23	26	20
Mar 2022	20	21	26
Apr 2022	10	8	12
May 2022	32	28	21
Jun 2022	26	26	12
Jul 2022	19	17	11
Aug 2022	24	22	13
Sep 2022	19	22	17
Oct 2022	38	39	19
Nov 2022	15	14	18
Dec 2022	7	7	18
Jan 2023	14	13	31
Feb 2023	26	26	17
Mar 2023	27	23	31
Apr 2023	21	11	15
May 2023	6	5	17
Jun 2023	8	7	13
Jul 2023	12	10	20
Aug 2023	15	14	9
Sep 2023	30	28	20
Oct 2023	13	11	15
Nov 2023	18	19	6
Dec 2023	38	1	10
Jan 2024	20	4	2
Feb 2024	22	3	2
Mar 2024	128	4	1
Apr 2024	36	1	0
May 2024	36	1	1
Jun 2024	57	2	1
Jul 2024	46	0	0
Aug 2024	59	4	0
Sep 2024	27	1	1
Total	4168	4206	2050

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This article has a correction. Please see:

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