Exploring the genetic basis of 3MC syndrome: Findings in 12 further families.

American Journal of Medical Genetics. Part a
Jill UrquhartJill Clayton-Smith

Abstract

The 3MC syndromes are a group of rare autosomal recessive disorders where the main clinical features are cleft lip and palate, hypertelorism, highly arched eyebrows, caudal appendage, postnatal growth deficiency, and genitourinary tract anomalies. Ophthalmological abnormalities, most notably anterior chamber defects may also be seen. We describe the clinical and molecular findings in 13 individuals with suspected 3MC syndrome from 12 previously unreported families. The exclusion of the MASP1 and COLEC11 Loci in two individuals from different consanguineous families and the absence of mutations in four further individuals sequenced for both genes raises the possibility that that there is further genetic heterogeneity of 3MC syndrome.

References

Sep 1, 1978·The Journal of Pediatrics·V V MichelsA L Beaudet
Oct 1, 1996·Journal of Medical Genetics·R MingarelliB Dallapiccola
May 5, 2001·Genome Research·P C Ng, S Henikoff
Aug 13, 2005·American Journal of Medical Genetics. Part a·Luigi TitomanlioAlain Verloes
May 9, 2006·Nature Biotechnology·Stein AertsYves Moreau
Apr 3, 2009·Nucleic Acids Research·François-Olivier DesmetChristophe Béroud
Nov 18, 2009·The Journal of Immunology : Official Journal of the American Association of Immunologists·Søren E DegnSteffen Thiel
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Aug 3, 2010·Nature Methods·Jana Marie SchwarzDominik Seelow
Jan 25, 2011·Nature Genetics·Caroline RooryckPhilip L Beales
Oct 1, 2015·Orphanet Journal of Rare Diseases·Tahir AtikMustafa Tekin

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Citations

Mar 17, 2017·PLoS Genetics·Mustafa M MunyeVictor Hernandez-Hernandez
Aug 11, 2017·The Journal of Immunology : Official Journal of the American Association of Immunologists·Rasmus PihlSteffen Thiel
Jul 20, 2019·American Journal of Medical Genetics. Part a·Carey-Anne EvansTony Roscioli
Dec 13, 2019·Journal of Clinical Immunology·M Isabel García-LaordenCarlos Rodríguez-Gallego
May 23, 2020·American Journal of Medical Genetics. Part a·Cathleen LawsonAngie Jelin
Aug 11, 2017·Developmental Dynamics : an Official Publication of the American Association of Anatomists·Kaylia M DuncanEric C Liao
Mar 3, 2020·Frontiers in Neuroscience·Juliana MagdalonAndréa Laurato Sertié
Aug 6, 2020·International Journal of Molecular Sciences·Gabriela GajekMaciej Cedzyński
Mar 26, 2021·American Journal of Medical Genetics. Part a·Ceren Damla Durmaz, Şule Altıner

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