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Items: 3

1.
Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?
J J Jonsson, A Renieri, P G Gallagher, C E Kashtan, E M Cherniske, M Bruttini, M Piccini, F Vitelli, A Ballabio, B R Pober
J Med Genet. 1998 Apr; 35(4): 273–278. doi: 10.1136/jmg.35.4.273
PMCID:
PMC1051272
SummaryPage BrowsePDF–1.6M
2.
A third MRX family (MRX68) is the result of mutation in the long chain fatty acid-CoA ligase 4 (FACL4) gene: proposal of a rapid enzymatic assay for screening mentally retarded patients
I Longo, S Frints, J Fryns, I Meloni, C Pescucci, F Ariani, M Borghgraef, M Raynaud, P Marynen, C Schwartz, A Renieri, G Froyen
J Med Genet. 2003 Jan; 40(1): 11–17. doi: 10.1136/jmg.40.1.11
PMCID:
PMC1735250
SummaryPDF–247K
3.
AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis
Gaia Andreoletti, Eleanor G Seaby, Jennifer M Dewing, Ita O'Kelly, Katherine Lachlan, Rodney D Gilbert, Sarah Ennis
J Med Genet. 2017 Apr; 54(4): 269–277. Published online 2016 Nov 3. doi: 10.1136/jmedgenet-2016-104100
PMCID:
PMC5502304
AbstractArticlePDF–941K

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