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Items: 5

1.
Absent pituitary gland and hypoplasia of the cerebellar vermis associated with partial ophthalmoplegia and postaxial polydactyly: a variant of orofaciodigital syndrome VI or a new syndrome?
L Al-Gazali, L Sztriha, J Punnose, W Shather, M Nork
J Med Genet. 1999 Feb; 36(2): 161–166.
PMCID:
PMC1734312
SummaryPDF–144K
2.
Cerebellar vermis and midbrain dysgenesis in oculomotor apraxia: MR findings.
E A Whitsel, M Castillo, O D'Cruz
AJNR Am J Neuroradiol. 1995 Apr; 16(4): 831-4.
PMCID:
PMC8332310
SummaryPDF–284K
3.
Compound heterozygous alterations in intraflagellar transport protein CLUAP1 in a child with a novel Joubert and oral–facial–digital overlap syndrome
Jennifer J. Johnston, Chanjae Lee, Ingrid M. Wentzensen, Melissa A. Parisi, Molly M. Crenshaw, Julie C. Sapp, Jeffrey M. Gross, John B. Wallingford, Leslie G. Biesecker
Cold Spring Harb Mol Case Stud. 2017 Jul; 3(4): a001321. doi: 10.1101/mcs.a001321
PMCID:
PMC5495032
AbstractArticlePDF–1.1M
4.
TMEM67 mutations found in a case of Joubert syndrome with renal hypodysplasia
Yumiko Komatsu, Toshifumi Suzuki, Yoshinori Tsurusaki, Noriko Miyake, Naomichi Matsumoto, Kunimasa Yan
CEN Case Rep. 2016 Nov; 5(2): 137–140. Published online 2016 Jan 21. doi: 10.1007/s13730-015-0210-1
PMCID:
PMC5413751
AbstractArticlePDF–719K
5.
Mutation spectrum of Joubert syndrome and related disorders among Arabs
Salma Ben-Salem, Aisha M Al-Shamsi, Joseph G Gleeson, Bassam R Ali, Lihadh Al-Gazali
Hum Genome Var. 2014; 1: 14020. Published online 2014 Nov 6. doi: 10.1038/hgv.2014.20
Correction in:
Hum Genome Var. 2015; 2: 15001.
PMCID:
PMC4785524
AbstractArticlePDF–1.4M

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