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Items: 5

1.
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy
Bryce A. Mendelsohn, Daniah T. Beleford, Aya Abu-El-Haija, Norah S. Alsaleh, Zuhair Rahbeeni, Pierre-Marie Martin, Shannon Rego, Alyssa Huang, Gina Capodanno, Joseph T. Shieh, Jessica Van Ziffle, Neil Risch, Fowzan S. Alkuraya, Anne M. Slavotinek
Am J Med Genet A. Author manuscript; available in PMC 2023 Jul 11.
Published in final edited form as: Am J Med Genet A. 2020 Mar; 182(3): 513–520. Published online 2019 Dec 27. doi: 10.1002/ajmg.a.61450
PMCID:
PMC10335815
ArticlePDF–1.2M
2.
ATRX has a critical and conserved role in mammalian sexual differentiation
Kim Huyhn, Marilyn B Renfree, Jennifer A Graves, Andrew J Pask
BMC Dev Biol. 2011; 11: 39. Published online 2011 Jun 14. doi: 10.1186/1471-213X-11-39
PMCID:
PMC3133603
ArticlePDF–2.9M
3.
Craniofacioskeletal Syndrome: An X-Linked Dominant Disorder With Early Lethality in Males
Roger E. Stevenson, Cam K. Brasington, Cindy Skinner, Richard J. Simensen, J. Edward Spence, Shelli Kesler, Allan L. Reiss, Charles E. Schwartz
Am J Med Genet A. Author manuscript; available in PMC 2011 Mar 21.
Published in final edited form as: Am J Med Genet A. 2007 Oct 1; 143A(19): 2321–2329. doi: 10.1002/ajmg.a.31928
PMCID:
PMC3061623
ArticlePDF–776K
4.
Solitary median maxillary central incisor (SMMCI) syndrome
Roger K Hall
Orphanet J Rare Dis. 2006; 1: 12. Published online 2006 Apr 9. doi: 10.1186/1750-1172-1-12
PMCID:
PMC1464380
ArticlePDF–318K
5.
An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome?
N J Carpenter, L G Leichtman, S Stamper, B Say
J Med Genet. 1981 Jun; 18(3): 234–236. doi: 10.1136/jmg.18.3.234
PMCID:
PMC1048713
ArticlePDF–578K

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