Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy

J Kohlhase; L Schubert; M Liebers; A Rauch; K Becker; S N Mohammed; R Newbury-Ecob; W Reardon

doi:10.1136/jmg.40.7.473

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Original article

Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy

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	Abstract	Full	Pdf
Jul 2003	126	469	233
Aug 2003	53	304	127
Sep 2003	33	85	28
Oct 2003	27	100	24
Nov 2003	24	63	20
Dec 2003	24	46	23
Jan 2004	25	72	39
Feb 2004	15	68	22
Mar 2004	24	46	18
Apr 2004	19	29	19
May 2004	40	67	18
Jun 2004	37	86	24
Jul 2004	47	88	31
Aug 2004	58	91	28
Sep 2004	44	87	24
Oct 2004	15	51	11
Nov 2004	15	66	30
Dec 2004	14	68	21
Jan 2005	20	99	31
Feb 2005	8	71	21
Mar 2005	13	44	40
Apr 2005	17	51	22
May 2005	14	60	24
Jun 2005	9	56	31
Jul 2005	6	44	22
Aug 2005	15	57	19
Sep 2005	6	37	20
Oct 2005	8	41	25
Nov 2005	12	54	15
Dec 2005	9	43	13
Jan 2006	9	73	25
Feb 2006	12	33	20
Mar 2006	6	53	28
Apr 2006	4	43	15
May 2006	5	50	19
Jun 2006	8	36	18
Jul 2006	5	27	12
Aug 2006	4	36	11
Sep 2006	10	54	20
Oct 2006	10	51	13
Nov 2006	14	45	12
Dec 2006	13	38	16
Jan 2007	14	58	20
Feb 2007	11	59	18
Mar 2007	21	56	20
Apr 2007	40	8	7
May 2007	30	10	7
Jun 2007	35	16	4
Jul 2007	11	19	5
Aug 2007	20	12	12
Sep 2007	15	16	8
Oct 2007	30	11	8
Nov 2007	22	12	5
Dec 2007	11	5	3
Jan 2008	29	9	12
Feb 2008	20	8	10
Mar 2008	22	12	12
Apr 2008	19	23	11
May 2008	6	17	9
Jun 2008	16	7	4
Jul 2008	15	12	1
Aug 2008	32	13	6
Sep 2008	27	12	11
Oct 2008	16	13	10
Nov 2008	19	9	3
Dec 2008	15	5	4
Jan 2009	16	11	10
Feb 2009	17	6	3
Mar 2009	16	8	6
Apr 2009	9	5	5
May 2009	15	11	8
Jun 2009	18	8	4
Jul 2009	12	2	7
Aug 2009	11	4	4
Sep 2009	5	3	2
Oct 2009	27	9	1
Nov 2009	32	4	3
Dec 2009	17	3	5
Jan 2010	20	2	4
Feb 2010	12	7	3
Mar 2010	12	5	4
Apr 2010	14	6	0
May 2010	10	2	3
Jun 2010	14	5	7
Jul 2010	109	58	6
Aug 2010	131	45	5
Sep 2010	176	52	1
Oct 2010	185	61	2
Nov 2010	137	50	4
Dec 2010	113	49	2
Jan 2011	255	59	4
Feb 2011	185	73	3
Mar 2011	243	64	9
Apr 2011	257	85	6
May 2011	253	57	5
Jun 2011	186	43	5
Jul 2011	243	45	5
Aug 2011	258	64	2
Sep 2011	255	75	3
Oct 2011	266	54	4
Nov 2011	106	102	7
Dec 2011	17	161	9
Jan 2012	15	195	6
Feb 2012	12	141	6
Mar 2012	12	122	7
Apr 2012	14	120	9
May 2012	10	172	13
Jun 2012	11	128	4
Jul 2012	14	148	6
Aug 2012	10	124	5
Sep 2012	16	127	8
Oct 2012	27	144	21
Nov 2012	24	119	11
Dec 2012	29	20	10
Jan 2013	55	38	13
Feb 2013	31	39	10
Mar 2013	29	31	14
Apr 2013	30	37	14
May 2013	34	35	22
Jun 2013	5	19	8
Jul 2013	10	15	4
Aug 2013	20	15	16
Sep 2013	13	17	7
Oct 2013	21	32	15
Nov 2013	17	20	19
Dec 2013	18	12	3
Jan 2014	11	23	9
Feb 2014	14	10	9
Mar 2014	21	17	6
Apr 2014	17	17	6
May 2014	13	23	14
Jun 2014	8	11	3
Jul 2014	12	11	6
Aug 2014	10	11	9
Sep 2014	7	14	5
Oct 2014	15	7	4
Nov 2014	13	12	6
Dec 2014	12	17	6
Jan 2015	6	10	2
Feb 2015	9	9	10
Mar 2015	10	11	6
Apr 2015	11	10	2
May 2015	11	17	7
Jun 2015	5	9	6
Jul 2015	5	9	11
Aug 2015	5	9	13
Sep 2015	10	15	14
Oct 2015	6	9	4
Nov 2015	9	14	6
Dec 2015	7	8	3
Jan 2016	13	15	7
Feb 2016	31	11	8
Mar 2016	9	7	11
Apr 2016	18	9	6
May 2016	3	9	2
Jun 2016	7	8	7
Jul 2016	16	7	10
Aug 2016	8	7	6
Sep 2016	18	8	8
Oct 2016	16	12	12
Nov 2016	21	11	5
Dec 2016	8	6	7
Jan 2017	12	9	6
Feb 2017	4	3	4
Mar 2017	3	14	3
Apr 2017	7	8	2
May 2017	4	16	1
Jun 2017	7	29	3
Jul 2017	21	17	14
Aug 2017	35	33	7
Sep 2017	38	30	4
Oct 2017	33	25	5
Nov 2017	39	31	3
Dec 2017	34	22	8
Jan 2018	36	30	6
Feb 2018	33	21	3
Mar 2018	24	18	31
Apr 2018	36	26	5
May 2018	47	35	8
Jun 2018	49	43	11
Jul 2018	45	33	6
Aug 2018	34	24	19
Sep 2018	27	23	7
Oct 2018	42	38	4
Nov 2018	71	65	8
Dec 2018	70	64	5
Jan 2019	55	53	24
Feb 2019	65	58	13
Mar 2019	60	50	21
Apr 2019	28	24	18
May 2019	33	33	17
Jun 2019	23	19	4
Jul 2019	26	19	9
Aug 2019	27	21	10
Sep 2019	22	18	8
Oct 2019	35	31	9
Nov 2019	23	11	7
Dec 2019	13	13	5
Jan 2020	31	29	13
Feb 2020	23	15	6
Mar 2020	31	22	9
Apr 2020	21	17	5
May 2020	20	16	9
Jun 2020	38	31	12
Jul 2020	17	12	3
Aug 2020	24	22	9
Sep 2020	31	29	10
Oct 2020	26	26	11
Nov 2020	19	17	5
Dec 2020	19	13	6
Jan 2021	19	14	9
Feb 2021	23	20	14
Mar 2021	27	21	11
Apr 2021	14	12	14
May 2021	29	22	3
Jun 2021	17	17	6
Jul 2021	8	8	6
Aug 2021	16	18	15
Sep 2021	36	36	17
Oct 2021	18	18	21
Nov 2021	32	24	19
Dec 2021	26	18	7
Jan 2022	30	27	7
Feb 2022	26	20	12
Mar 2022	37	24	11
Apr 2022	49	33	15
May 2022	64	45	22
Jun 2022	75	56	16
Jul 2022	44	34	8
Aug 2022	43	41	10
Sep 2022	29	28	17
Oct 2022	71	71	13
Nov 2022	43	27	8
Dec 2022	33	26	10
Jan 2023	53	39	8
Feb 2023	47	34	3
Mar 2023	47	29	12
Apr 2023	32	29	7
May 2023	31	27	10
Jun 2023	26	26	4
Jul 2023	25	21	11
Aug 2023	33	33	10
Sep 2023	33	15	5
Oct 2023	57	47	5
Nov 2023	79	75	10
Dec 2023	109	23	3
Jan 2024	106	9	4
Feb 2024	48	2	0
Mar 2024	257	12	1
Total	9170	9422	2910

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