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1989 1
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Diagnostic and counselling difficulties using a fully comprehensive screening protocol for families at risk for tuberous sclerosis.
al-Gazali LI, Arthur RJ, Lamb JT, Hammer HM, Coker TP, Hirschmann PN, Gibbs J, Mueller RF. al-Gazali LI, et al. J Med Genet. 1989 Nov;26(11):694-703. doi: 10.1136/jmg.26.11.694. J Med Genet. 1989. PMID: 2585469 Free PMC article.
In a fifth family, the father had suggestive but not diagnostic features of TS on the cranial CT scan and skeletal survey. In the sixth family, the mother was found to have atypical calcification on CT scan. In a seventh instance a sib from a two generation family h …
In a fifth family, the father had suggestive but not diagnostic features of TS on the cranial CT scan and skeletal survey. In the six …
Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlation.
Lalani SR, Safiullah AM, Fernbach SD, Harutyunyan KG, Thaller C, Peterson LE, McPherson JD, Gibbs RA, White LD, Hefner M, Davenport SL, Graham JM, Bacino CA, Glass NL, Towbin JA, Craigen WJ, Neish SR, Lin AE, Belmont JW. Lalani SR, et al. Am J Hum Genet. 2006 Feb;78(2):303-14. doi: 10.1086/500273. Epub 2005 Dec 29. Am J Hum Genet. 2006. PMID: 16400610 Free PMC article.
Characteristic associated anomalies include ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner ear abnormalities, hearing loss, cardiovascular malformations, urogenital anomalies, and growth retardation. ...Phenotypically, the mu …
Characteristic associated anomalies include ocular coloboma, choanal atresia, cranial nerve defects, distinctive external and inner e …