Total: 4 |
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PMID (PMCID) | ||
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27102574 |
MALE | Child |
A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia. | ||
Torraco A, Bianchi M, Verrigni D, Gelmetti V, Riley L, Niceta M, Martinelli D, Montanari A, Guo Y, Rizza T, Diodato D, Di Nottia M, Lucarelli B, Sorrentino F, Piemonte F, Francisci S, Tartaglia M, Valente EM, Dionisi-Vici C, Christodoulou J, Bertini E, Carrozzo R. Clin Genet. 2017;91(3):441-447. |
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microphthalmia with linear skin defects and histiocytoid cardiomyopathy. | ||
12900578 |
MALE | Infant |
Microphthalmia with linear skin defects syndrome (MLS): a male with a mosaic paracentric inversion of Xp. | ||
Kutsche K, Werner W, Bartsch O, von der Wense A, Meinecke P, Gal A. Cytogenet Genome Res. 2002;99(1-4):297-302. |
||
The patient showed agenesis of the corpus callosum, histiocytoid cardiomyopathy, and lactic acidosis but no microphthalmia, and carried a mosaic subtle inversion of the short arm of the X chromosome in 15% of his peripheral blood lymphocytes, 46,Y, inv(X)(p22.13 approximately 22.2p22.32 approximately 22.33)[49]/46, XY[271]. | ||
7856638 |
MIXED_SAMPLE | Infant |
Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy? | ||
Bird LM, Krous HF, Eichenfield LF, Swalwell CI, Jones MC. Am J Med Genet. 1994;53(2):141-8. |
||
Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy? | ||
7856638 |
MIXED_SAMPLE | Infant |
Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy? | ||
Bird LM, Krous HF, Eichenfield LF, Swalwell CI, Jones MC. Am J Med Genet. 1994;53(2):141-8. |
||
Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy? |