Interstitial 12p deletion involving more than 40 genes in a patient with postnatal microcephaly, psychomotor delay, optic nerve atrophy, and facial dysmorphism

Author:

Hoppe Anne,Heinemeyer Jan,Klopocki Eva,Graul-Neumann Luitgard M.,Spors Birgit,Bittigau Petra,Kaindl Angela M.

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference30 articles.

1. Deletion at 12p in a Japanese child with brachydactyly overlaps the assigned locus of brachydactyly with hypertension in a Turkish family;Bahring;Am. J. Hum. Genet.,1997

2. ABCC9 mutations identified in human dilated cardiomyopathy disrupt catalytic KATP channel gating;Bienengraeber;Nat. Genet.,2004

3. A new case of partial monosomy of chromosome 12, del(12)(p11.01 to p12.109) confirming the location of the gene for lactate dehydrogenase B;Boilly-Dartigalongue;Ann. Genet.,1985

4. Human NDR kinases control G(1)/S cell cycle transition by directly regulating p21 stability;Cornils;Mol. Cell Biol.,2011

5. Dicer1 and miR-219 Are required for normal oligodendrocyte differentiation and myelination;Dugas;Neuron,2010

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