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2006 2
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Page 1
Solitary median maxillary central incisor (SMMCI) syndrome.
Hall RK. Hall RK. Orphanet J Rare Dis. 2006 Apr 9;1:12. doi: 10.1186/1750-1172-1-12. Orphanet J Rare Dis. 2006. PMID: 16722608 Free PMC article. Review.
Short stature is present in half the children. Diagnosis should be made by eight months of age, but can be made at birth and even prenatally at 18-22 weeks from the routine mid-trimester ultrasound scan. ...Short stature may require growth hormone ther …
Short stature is present in half the children. Diagnosis should be made by eight months of age, but can be made at birth and e …
[Monogenic causes of X-linked mental retardation].
Guillén-Navarro E, Glóver-López G. Guillén-Navarro E, et al. Rev Neurol. 2006 Jan 7;42 Suppl 1:S45-9. Rev Neurol. 2006. PMID: 16506132 Free article. Review. Spanish.
Cerebellar hypoplasia points towards alterations of the OPHN1 gene. In males with coarse features and genital abnormalities screening for alpha thalassemia must be carried out; this association results from mutations in the ATRX gene. ...Mutations in the PQBP1 and J …
Cerebellar hypoplasia points towards alterations of the OPHN1 gene. In males with coarse features and genital abnormalities sc …
Alpha-thalassemia intellectual disability: variable phenotypic expression among males with a recurrent nonsense mutation - c.109C>T (p.R37X).
Basehore MJ, Michaelson-Cohen R, Levy-Lahad E, Sismani C, Bird LM, Friez MJ, Walsh T, Abidi F, Holloway L, Skinner C, McGee S, Alexandrou A, Syrrou M, Patsalis PC, Raymond G, Wang T, Schwartz CE, King MC, Stevenson RE. Basehore MJ, et al. Clin Genet. 2015 May;87(5):461-6. doi: 10.1111/cge.12420. Epub 2014 May 30. Clin Genet. 2015. PMID: 24805811 Review.
Alpha-thalassemia intellectual disability, one of the recognizable X-linked disability syndromes, is characterized by short stature, microcephaly, distinctive facies, hypotonic appearance, cardiac and genital anomalies, and marked skewing of X-i …
Alpha-thalassemia intellectual disability, one of the recognizable X-linked disability syndromes, is characterized by short statur …