Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.

A U López-Gutiérrez; L Riba; M L Ordoñez-Sánchez; S Ramírez-Jiménez; M Cerrillo-Hinojosa; M T Tusié-Luna

doi:10.1136/jmg.35.12.1014

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Research Article

Uniparental disomy for chromosome 6 results in steroid 21-hydroxylase deficiency: evidence of different genetic mechanisms involved in the production of the disease.

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Nov 1999	1	0	0
Jan 2000	2	0	0
Mar 2000	4	0	0
Apr 2000	2	0	0
Jul 2000	1	0	0
Aug 2000	1	0	0
Sep 2000	1	0	0
Oct 2000	2	0	0
Nov 2000	1	0	0
Apr 2001	8	0	0
Jul 2001	1	0	0
Sep 2001	1	0	0
Oct 2001	1	0	0
Mar 2002	2	0	0
May 2002	2	0	0
Jul 2002	1	0	0
Aug 2002	1	0	0
Nov 2002	2	0	0
Dec 2002	1	0	0
Mar 2003	3	0	0
May 2003	8	0	0
Jul 2003	4	0	0
Aug 2003	7	0	0
Sep 2003	10	0	0
Oct 2003	13	0	0
Nov 2003	14	0	0
Dec 2003	11	0	0
Jan 2004	21	0	0
Feb 2004	7	0	0
Mar 2004	12	0	0
Apr 2004	13	0	0
May 2004	4	0	0
Jun 2004	5	0	0
Jul 2004	14	0	0
Aug 2004	13	0	0
Sep 2004	5	0	0
Oct 2004	7	0	0
Nov 2004	5	0	0
Dec 2004	7	0	0
Jan 2005	9	0	0
Feb 2005	2	0	0
Mar 2005	36	0	0
Apr 2005	1	0	0
May 2005	6	0	0
Jun 2005	3	0	0
Jul 2005	2	0	0
Aug 2005	1	0	0
Oct 2005	3	0	0
Nov 2005	4	0	0
Dec 2005	1	0	0
Jan 2006	7	0	0
Mar 2006	1	0	0
Apr 2006	1	0	0
May 2006	2	0	0
Jun 2006	4	0	0
Jul 2006	1	0	0
Aug 2006	3	0	0
Sep 2006	9	0	0
Oct 2006	6	0	0
Nov 2006	4	0	0
Dec 2006	4	0	0
Jan 2007	2	0	0
Feb 2007	4	0	0
Mar 2007	11	0	0
Apr 2007	5	0	0
May 2007	8	0	0
Jun 2007	5	0	0
Jul 2007	3	0	0
Aug 2007	7	0	0
Sep 2007	5	0	0
Oct 2007	4	0	0
Nov 2007	1	0	0
Dec 2007	2	0	0
Jan 2008	6	0	0
Feb 2008	1	0	0
Mar 2008	7	0	0
Apr 2008	15	0	0
Jun 2008	2	0	0
Jul 2008	7	0	0
Aug 2008	2	0	0
Sep 2008	6	0	0
Oct 2008	1	0	0
Nov 2008	3	0	0
Dec 2008	1	0	1
Jan 2009	4	0	2
Feb 2009	2	0	2
Mar 2009	2	0	1
Apr 2009	1	0	4
May 2009	2	0	0
Jun 2009	2	0	2
Jul 2009	8	0	1
Sep 2009	4	0	1
Oct 2009	2	0	0
Nov 2009	5	0	0
Dec 2009	4	0	0
Jan 2010	3	0	3
Feb 2010	30	0	0
Mar 2010	3	0	0
Apr 2010	1	0	2
May 2010	0	0	2
Jun 2010	2	0	3
Jul 2010	8	0	0
Aug 2010	1	0	3
Oct 2010	4	0	1
Nov 2010	3	0	0
Dec 2010	2	0	0
Jan 2011	5	0	0
Feb 2011	2	0	0
Mar 2011	1	0	1
Apr 2011	5	0	3
May 2011	1	0	2
Jun 2011	3	0	0
Jul 2011	6	0	0
Aug 2011	2	0	0
Sep 2011	15	0	3
Oct 2011	1	0	0
Nov 2011	5	0	0
Dec 2011	1	0	5
Jan 2012	5	0	2
Feb 2012	3	0	1
Mar 2012	2	0	2
Apr 2012	5	0	5
May 2012	2	0	2
Jun 2012	3	0	6
Jul 2012	8	0	2
Aug 2012	2	0	5
Sep 2012	2	0	4
Oct 2012	9	0	4
Nov 2012	9	0	1
Dec 2012	6	0	6
Jan 2013	10	0	1
Feb 2013	21	0	1
Mar 2013	6	0	4
Apr 2013	3	0	1
May 2013	8	0	10
Jun 2013	2	0	1
Jul 2013	7	0	7
Aug 2013	1	0	2
Sep 2013	4	0	1
Oct 2013	6	0	2
Nov 2013	6	0	1
Dec 2013	8	0	1
Jan 2014	8	0	0
Feb 2014	3	0	4
Mar 2014	13	0	3
Apr 2014	4	0	12
May 2014	7	0	38
Jun 2014	0	0	1
Jul 2014	11	1	3
Aug 2014	5	0	4
Sep 2014	13	0	5
Oct 2014	3	1	12
Nov 2014	1	0	3
Dec 2014	1	0	2
Jan 2015	5	0	2
Feb 2015	2	0	6
Mar 2015	11	0	7
Apr 2015	2	0	5
May 2015	0	0	6
Jun 2015	4	0	2
Jul 2015	2	0	4
Aug 2015	4	0	13
Sep 2015	7	0	14
Oct 2015	3	0	0
Nov 2015	6	0	5
Dec 2015	2	0	5
Jan 2016	1	0	3
Feb 2016	2	0	3
Mar 2016	5	0	8
Apr 2016	14	0	8
May 2016	4	0	6
Jun 2016	0	0	10
Jul 2016	5	0	8
Aug 2016	1	0	2
Sep 2016	9	0	4
Oct 2016	6	0	4
Nov 2016	3	0	6
Dec 2016	10	0	1
Jan 2017	10	0	3
Feb 2017	10	0	5
Mar 2017	7	0	0
Apr 2017	3	0	0
May 2017	2	0	5
Jun 2017	11	0	2
Jul 2017	11	0	5
Aug 2017	11	0	3
Sep 2017	20	0	1
Oct 2017	18	0	2
Nov 2017	26	0	4
Dec 2017	14	0	6
Jan 2018	12	0	1
Feb 2018	13	0	2
Mar 2018	12	0	2
Apr 2018	6	0	2
May 2018	6	0	2
Jun 2018	12	0	3
Jul 2018	12	0	0
Aug 2018	18	0	5
Sep 2018	2	0	2
Oct 2018	22	0	2
Nov 2018	6	0	3
Dec 2018	16	0	7
Jan 2019	14	0	3
Feb 2019	12	0	12
Mar 2019	23	0	7
Apr 2019	10	0	9
May 2019	16	0	7
Jun 2019	6	0	5
Jul 2019	6	0	5
Aug 2019	2	0	5
Sep 2019	4	0	2
Oct 2019	8	0	8
Nov 2019	12	0	8
Dec 2019	12	0	7
Jan 2020	18	0	8
Feb 2020	10	0	5
Mar 2020	18	0	7
Apr 2020	10	0	1
May 2020	14	0	3
Jun 2020	16	0	3
Jul 2020	12	0	6
Aug 2020	2	0	4
Sep 2020	16	0	1
Oct 2020	14	0	5
Nov 2020	18	0	8
Dec 2020	22	0	3
Jan 2021	10	0	5
Feb 2021	10	0	2
Mar 2021	22	0	5
Apr 2021	6	0	7
May 2021	4	0	3
Jun 2021	0	0	4
Jul 2021	0	0	8
Aug 2021	0	0	8
Sep 2021	0	0	6
Oct 2021	18	0	17
Nov 2021	8	0	11
Dec 2021	24	0	8
Jan 2022	28	0	5
Feb 2022	18	0	5
Mar 2022	12	0	2
Apr 2022	20	0	7
May 2022	44	0	7
Jun 2022	32	0	4
Jul 2022	12	0	4
Aug 2022	58	0	9
Sep 2022	36	0	15
Oct 2022	44	0	9
Nov 2022	14	0	2
Dec 2022	10	0	3
Jan 2023	20	0	3
Feb 2023	58	0	0
Mar 2023	2	0	4
Apr 2023	2	0	3
May 2023	4	0	6
Jun 2023	4	0	0
Jul 2023	8	0	7
Aug 2023	2	0	4
Sep 2023	2	0	2
Oct 2023	24	0	6
Nov 2023	32	0	3
Dec 2023	30	0	0
Jan 2024	6	0	1
Feb 2024	24	0	0
Mar 2024	30	0	0
Apr 2024	50	0	1
May 2024	28	0	0
Jun 2024	22	0	0
Jul 2024	14	0	1
Aug 2024	58	0	0
Sep 2024	24	0	1
Total	2340	2	730

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