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2012 | 2 |
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Transient infantile hypertriglyceridemia, fatty liver, and hepatic fibrosis caused by mutated GPD1, encoding glycerol-3-phosphate dehydrogenase 1.
Am J Hum Genet. 2012 Jan 13;90(1):49-60. doi: 10.1016/j.ajhg.2011.11.028. Epub 2012 Jan 5.
Am J Hum Genet. 2012.
PMID: 22226083
Free PMC article.
Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN.
Maydan G, Noyman I, Har-Zahav A, Neriah ZB, Pasmanik-Chor M, Yeheskel A, Albin-Kaplanski A, Maya I, Magal N, Birk E, Simon AJ, Halevy A, Rechavi G, Shohat M, Straussberg R, Basel-Vanagaite L.
Maydan G, et al. Among authors: albin kaplanski a.
J Med Genet. 2011 Jun;48(6):383-9. doi: 10.1136/jmg.2010.087114. Epub 2011 Apr 14.
J Med Genet. 2011.
PMID: 21493957
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New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.
Basel-Vanagaite L, Sprecher E, Gat A, Merlob P, Albin-Kaplanski A, Konen O, Solomon BD, Muenke M, Grzeschik KH, Sirota L.
Basel-Vanagaite L, et al. Among authors: albin kaplanski a.
Pediatr Dermatol. 2012 Jan-Feb;29(1):89-95. doi: 10.1111/j.1525-1470.2011.01403.x. Epub 2011 Oct 13.
Pediatr Dermatol. 2012.
PMID: 21995818
Free PMC article.
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