Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome?

J Siegel-Bartlet; A Levin; A S Teebi; S J Kennedy

doi:10.1136/jmg.39.2.145

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Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome?

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	Abstract	Full	Pdf
Feb 2002	0	27	1
Mar 2002	0	26	3
Apr 2002	0	16	13
May 2002	0	15	3
Jun 2002	0	6	3
Jul 2002	0	7	3
Aug 2002	0	4	4
Sep 2002	0	4	2
Oct 2002	0	1	0
Nov 2002	0	5	0
Dec 2002	0	3	1
Jan 2003	0	4	0
Feb 2003	0	7	2
Mar 2003	0	2	2
Apr 2003	0	7	0
May 2003	0	2	0
Jun 2003	0	4	0
Jul 2003	0	46	3
Aug 2003	0	7	0
Sep 2003	0	8	0
Oct 2003	0	35	2
Nov 2003	0	10	0
Dec 2003	0	10	0
Jan 2004	0	22	2
Feb 2004	0	6	4
Mar 2004	0	11	2
Apr 2004	0	11	0
May 2004	0	36	0
Jun 2004	0	53	4
Jul 2004	0	72	2
Aug 2004	0	81	2
Sep 2004	0	118	4
Oct 2004	9	101	4
Nov 2004	11	113	3
Dec 2004	7	43	0
Jan 2005	17	95	2
Feb 2005	6	110	4
Mar 2005	13	96	4
Apr 2005	11	44	6
May 2005	6	69	3
Jun 2005	6	39	16
Jul 2005	4	50	1
Aug 2005	1	57	7
Sep 2005	5	30	6
Oct 2005	2	40	0
Nov 2005	6	37	10
Dec 2005	2	54	3
Jan 2006	7	76	6
Feb 2006	2	37	10
Mar 2006	1	37	6
Apr 2006	2	26	10
May 2006	2	30	2
Jun 2006	2	50	5
Jul 2006	1	26	5
Aug 2006	0	37	3
Sep 2006	12	56	1
Oct 2006	4	56	2
Nov 2006	2	85	3
Dec 2006	2	61	1
Jan 2007	1	74	5
Feb 2007	2	71	1
Mar 2007	5	91	2
Apr 2007	58	11	3
May 2007	30	9	1
Jun 2007	38	10	2
Jul 2007	20	28	4
Aug 2007	30	11	1
Sep 2007	27	10	2
Oct 2007	29	10	3
Nov 2007	18	7	2
Dec 2007	20	9	2
Jan 2008	33	14	6
Feb 2008	26	8	4
Mar 2008	33	16	10
Apr 2008	23	5	0
May 2008	27	6	0
Jun 2008	16	8	0
Jul 2008	27	11	1
Aug 2008	42	8	0
Sep 2008	31	6	0
Oct 2008	16	5	2
Nov 2008	12	5	0
Dec 2008	12	2	1
Jan 2009	19	8	0
Feb 2009	23	7	2
Mar 2009	27	10	0
Apr 2009	22	9	0
May 2009	19	11	0
Jun 2009	22	9	2
Jul 2009	24	5	1
Aug 2009	30	11	3
Sep 2009	17	4	0
Oct 2009	27	5	2
Nov 2009	31	12	3
Dec 2009	21	7	3
Jan 2010	25	8	1
Feb 2010	15	6	3
Mar 2010	16	4	1
Apr 2010	15	6	3
May 2010	28	5	2
Jun 2010	14	4	2
Jul 2010	26	6	2
Aug 2010	38	13	5
Sep 2010	33	7	4
Oct 2010	36	6	0
Nov 2010	40	12	0
Dec 2010	20	5	0
Jan 2011	51	14	1
Feb 2011	44	11	1
Mar 2011	61	18	1
Apr 2011	54	12	0
May 2011	96	5	1
Jun 2011	123	6	0
Jul 2011	138	5	1
Aug 2011	100	14	0
Sep 2011	93	15	0
Oct 2011	103	10	0
Nov 2011	51	27	1
Dec 2011	18	57	3
Jan 2012	13	65	1
Feb 2012	9	43	1
Mar 2012	25	49	0
Apr 2012	9	80	3
May 2012	15	57	2
Jun 2012	8	57	3
Jul 2012	8	63	7
Aug 2012	18	48	3
Sep 2012	18	65	5
Oct 2012	28	56	8
Nov 2012	0	35	5
Dec 2012	0	20	8
Jan 2013	0	40	6
Feb 2013	0	22	4
Mar 2013	0	17	4
Apr 2013	0	31	9
May 2013	0	24	4
Jun 2013	1	21	1
Jul 2013	15	16	0
Aug 2013	11	26	2
Sep 2013	8	19	3
Oct 2013	9	23	1
Nov 2013	5	20	1
Dec 2013	1	19	0
Jan 2014	3	16	0
Feb 2014	3	11	1
Mar 2014	9	25	6
Apr 2014	9	26	3
May 2014	6	35	0
Jun 2014	4	25	3
Jul 2014	3	30	0
Aug 2014	1	34	3
Sep 2014	2	31	1
Oct 2014	10	17	2
Nov 2014	0	25	1
Dec 2014	3	22	6
Jan 2015	0	23	1
Feb 2015	4	9	6
Mar 2015	6	20	1
Apr 2015	10	17	3
May 2015	1	27	1
Jun 2015	8	20	1
Jul 2015	8	26	0
Aug 2015	2	18	2
Sep 2015	3	16	0
Oct 2015	3	6	0
Nov 2015	9	12	1
Dec 2015	11	18	0
Jan 2016	10	19	3
Feb 2016	4	25	1
Mar 2016	2	16	3
Apr 2016	5	7	1
May 2016	1	14	0
Jun 2016	3	11	0
Jul 2016	5	27	2
Aug 2016	5	16	5
Sep 2016	7	22	4
Oct 2016	3	17	2
Nov 2016	9	20	0
Dec 2016	6	26	6
Jan 2017	3	15	2
Feb 2017	1	9	5
Mar 2017	1	14	1
Apr 2017	1	27	0
May 2017	1	43	5
Jun 2017	9	38	13
Jul 2017	21	20	5
Aug 2017	21	21	4
Sep 2017	32	28	4
Oct 2017	34	33	1
Nov 2017	50	48	0
Dec 2017	26	22	1
Jan 2018	24	24	1
Feb 2018	20	21	1
Mar 2018	34	31	4
Apr 2018	24	25	9
May 2018	50	52	6
Jun 2018	43	40	1
Jul 2018	40	36	0
Aug 2018	56	48	4
Sep 2018	36	36	1
Oct 2018	54	52	2
Nov 2018	39	39	2
Dec 2018	49	49	4
Jan 2019	41	40	0
Feb 2019	53	52	3
Mar 2019	66	67	5
Apr 2019	40	40	2
May 2019	37	35	4
Jun 2019	11	11	4
Jul 2019	20	21	4
Aug 2019	17	16	5
Sep 2019	21	19	1
Oct 2019	25	26	3
Nov 2019	19	17	2
Dec 2019	17	17	2
Jan 2020	36	35	7
Feb 2020	23	23	5
Mar 2020	13	13	2
Apr 2020	19	16	0
May 2020	16	15	2
Jun 2020	20	18	1
Jul 2020	14	14	3
Aug 2020	19	19	3
Sep 2020	17	17	2
Oct 2020	31	31	4
Nov 2020	15	15	4
Dec 2020	17	16	4
Jan 2021	28	26	1
Feb 2021	24	24	3
Mar 2021	37	37	5
Apr 2021	14	14	2
May 2021	10	10	5
Jun 2021	12	12	4
Jul 2021	16	16	9
Aug 2021	10	9	2
Sep 2021	23	22	8
Oct 2021	25	24	25
Nov 2021	18	15	13
Dec 2021	27	24	2
Jan 2022	44	44	1
Feb 2022	57	54	8
Mar 2022	75	75	3
Apr 2022	66	63	2
May 2022	81	81	12
Jun 2022	66	66	3
Jul 2022	69	67	0
Aug 2022	82	82	5
Sep 2022	56	56	10
Oct 2022	38	34	7
Nov 2022	51	49	3
Dec 2022	43	42	3
Jan 2023	48	48	3
Feb 2023	75	75	0
Mar 2023	60	63	4
Apr 2023	61	62	2
May 2023	58	56	8
Jun 2023	55	56	0
Jul 2023	69	70	6
Aug 2023	57	57	3
Sep 2023	14	14	2
Oct 2023	18	20	2
Nov 2023	24	26	3
Dec 2023	44	0	2
Jan 2024	20	0	0
Feb 2024	21	0	0
Mar 2024	42	4	1
Apr 2024	30	3	1
May 2024	31	0	0
Jun 2024	30	0	0
Jul 2024	62	0	0
Aug 2024	31	1	0
Total	5716	7540	756

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