Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

D R Mowat; G D Croaker; D T Cass; B A Kerr; J Chaitow; L C Adès; N L Chia; M J Wilson

doi:10.1136/jmg.35.8.617

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Hirschsprung disease, microcephaly, mental retardation, and characteristic facial features: delineation of a new syndrome and identification of a locus at chromosome 2q22-q23.

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	Abstract	Full	Pdf
Nov 1999	3	0	0
Feb 2000	1	0	0
Jun 2000	3	0	0
Jul 2000	1	0	0
Aug 2000	4	0	0
Sep 2000	1	0	0
Nov 2000	1	0	0
Jan 2001	1	0	0
Feb 2001	1	0	0
Apr 2001	1	0	0
Jun 2001	1	0	0
Jul 2001	1	0	0
Aug 2001	1	0	0
Sep 2001	2	0	0
Oct 2001	4	0	0
Nov 2001	3	0	0
Feb 2002	4	0	0
Mar 2002	5	0	0
Apr 2002	4	0	0
May 2002	2	0	0
Jun 2002	8	0	0
Jul 2002	2	0	0
Aug 2002	2	0	0
Sep 2002	1	0	0
Dec 2002	5	0	0
Jan 2003	3	0	0
Feb 2003	1	0	0
Mar 2003	3	0	0
Apr 2003	4	0	0
May 2003	1	0	0
Jun 2003	1	0	0
Jul 2003	23	0	1
Aug 2003	13	0	0
Sep 2003	21	0	0
Oct 2003	17	0	0
Nov 2003	24	0	0
Dec 2003	20	0	0
Jan 2004	18	0	0
Feb 2004	38	0	0
Mar 2004	28	1	0
Apr 2004	15	0	0
May 2004	19	0	0
Jun 2004	34	0	0
Jul 2004	23	0	0
Aug 2004	19	0	0
Sep 2004	10	0	0
Oct 2004	16	0	0
Nov 2004	17	0	0
Dec 2004	13	0	0
Jan 2005	12	0	0
Feb 2005	15	0	0
Mar 2005	32	0	0
Apr 2005	16	0	0
May 2005	15	0	0
Jun 2005	8	0	0
Jul 2005	15	0	0
Aug 2005	11	0	0
Sep 2005	17	0	0
Oct 2005	24	0	0
Nov 2005	19	0	0
Dec 2005	14	0	0
Jan 2006	7	0	0
Feb 2006	9	0	0
Mar 2006	17	0	0
Apr 2006	14	0	0
May 2006	7	0	0
Jun 2006	10	0	0
Jul 2006	19	0	0
Aug 2006	14	0	0
Sep 2006	21	0	0
Oct 2006	18	0	0
Nov 2006	17	0	0
Dec 2006	14	0	0
Jan 2007	13	0	0
Feb 2007	15	0	0
Mar 2007	28	0	0
Apr 2007	34	0	0
May 2007	20	0	0
Jun 2007	16	0	0
Jul 2007	22	0	0
Aug 2007	16	0	0
Sep 2007	68	0	0
Oct 2007	63	0	0
Nov 2007	32	0	0
Dec 2007	20	0	0
Jan 2008	39	0	0
Feb 2008	50	0	0
Mar 2008	45	0	0
Apr 2008	36	0	0
May 2008	35	0	0
Jun 2008	38	0	0
Jul 2008	32	0	0
Aug 2008	29	0	0
Sep 2008	41	0	0
Oct 2008	20	0	0
Nov 2008	21	0	3
Dec 2008	36	0	4
Jan 2009	50	0	10
Feb 2009	45	0	14
Mar 2009	46	0	8
Apr 2009	48	0	9
May 2009	37	0	8
Jun 2009	37	0	2
Jul 2009	36	0	6
Aug 2009	40	0	17
Sep 2009	37	0	7
Oct 2009	46	0	9
Nov 2009	54	0	5
Dec 2009	42	0	7
Jan 2010	42	0	14
Feb 2010	37	0	2
Mar 2010	54	0	3
Apr 2010	50	0	14
May 2010	37	0	2
Jun 2010	33	0	6
Jul 2010	34	0	10
Aug 2010	15	0	2
Sep 2010	34	0	5
Oct 2010	33	0	4
Nov 2010	32	0	2
Dec 2010	31	0	3
Jan 2011	34	0	6
Feb 2011	28	0	7
Mar 2011	37	0	7
Apr 2011	30	0	2
May 2011	57	1	11
Jun 2011	18	0	2
Jul 2011	29	0	4
Aug 2011	40	0	6
Sep 2011	25	0	6
Oct 2011	33	0	6
Nov 2011	32	1	6
Dec 2011	31	0	10
Jan 2012	24	0	13
Feb 2012	18	0	10
Mar 2012	30	0	11
Apr 2012	28	0	11
May 2012	45	0	19
Jun 2012	34	0	25
Jul 2012	54	0	19
Aug 2012	34	0	7
Sep 2012	27	0	14
Oct 2012	34	0	9
Nov 2012	38	0	15
Dec 2012	36	0	11
Jan 2013	71	0	19
Feb 2013	45	0	23
Mar 2013	35	0	8
Apr 2013	66	0	20
May 2013	34	0	8
Jun 2013	16	0	6
Jul 2013	16	0	5
Aug 2013	19	0	6
Sep 2013	22	0	5
Oct 2013	27	0	8
Nov 2013	31	0	9
Dec 2013	27	0	20
Jan 2014	38	0	18
Feb 2014	17	2	27
Mar 2014	33	3	20
Apr 2014	28	1	21
May 2014	21	1	10
Jun 2014	14	1	12
Jul 2014	22	4	9
Aug 2014	15	1	7
Sep 2014	30	2	13
Oct 2014	33	4	11
Nov 2014	31	2	9
Dec 2014	33	0	11
Jan 2015	22	0	14
Feb 2015	30	0	18
Mar 2015	27	0	17
Apr 2015	14	0	5
May 2015	31	0	14
Jun 2015	10	0	14
Jul 2015	11	0	7
Aug 2015	19	0	1
Sep 2015	38	0	13
Oct 2015	21	0	11
Nov 2015	29	0	6
Dec 2015	34	0	24
Jan 2016	42	0	19
Feb 2016	51	0	13
Mar 2016	30	0	12
Apr 2016	43	0	14
May 2016	23	0	11
Jun 2016	20	0	16
Jul 2016	33	0	12
Aug 2016	30	0	6
Sep 2016	90	0	9
Oct 2016	64	0	13
Nov 2016	59	1	25
Dec 2016	45	1	8
Jan 2017	71	0	14
Feb 2017	58	0	7
Mar 2017	84	0	12
Apr 2017	64	0	7
May 2017	49	0	10
Jun 2017	31	0	3
Jul 2017	52	0	19
Aug 2017	79	0	18
Sep 2017	84	0	15
Oct 2017	66	0	12
Nov 2017	50	0	19
Dec 2017	54	0	6
Jan 2018	34	0	3
Feb 2018	68	0	11
Mar 2018	54	0	17
Apr 2018	52	0	13
May 2018	54	0	16
Jun 2018	40	0	5
Jul 2018	38	0	5
Aug 2018	40	0	13
Sep 2018	46	0	12
Oct 2018	50	0	5
Nov 2018	48	0	6
Dec 2018	52	0	8
Jan 2019	39	0	4
Feb 2019	70	0	32
Mar 2019	86	0	8
Apr 2019	48	0	6
May 2019	56	0	17
Jun 2019	34	0	6
Jul 2019	43	0	16
Aug 2019	49	0	9
Sep 2019	41	0	5
Oct 2019	46	0	12
Nov 2019	30	0	10
Dec 2019	35	0	40
Jan 2020	42	0	13
Feb 2020	32	0	26
Mar 2020	52	0	8
Apr 2020	67	0	18
May 2020	37	0	10
Jun 2020	28	0	6
Jul 2020	38	0	10
Aug 2020	40	0	25
Sep 2020	29	0	16
Oct 2020	58	0	21
Nov 2020	39	0	10
Dec 2020	38	0	16
Jan 2021	38	0	12
Feb 2021	34	0	16
Mar 2021	54	0	11
Apr 2021	43	0	18
May 2021	13	0	8
Jun 2021	1	0	9
Jul 2021	1	0	12
Aug 2021	0	0	9
Sep 2021	0	0	9
Oct 2021	45	0	20
Nov 2021	35	0	22
Dec 2021	36	0	10
Jan 2022	36	0	11
Feb 2022	44	0	11
Mar 2022	49	0	10
Apr 2022	42	0	16
May 2022	50	0	9
Jun 2022	93	0	7
Jul 2022	29	0	5
Aug 2022	70	0	5
Sep 2022	50	0	12
Oct 2022	74	0	14
Nov 2022	77	0	21
Dec 2022	50	0	3
Jan 2023	58	0	7
Feb 2023	83	0	11
Total	8363	26	1919

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