A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
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Genotype-phenotype relationship in three cases with overlapping 19p13.12 microdeletions.A new case of de novo 19p13.2p13.12 deletion in a girl with overgrowth and severe developmental delay19p13.2 Microdeletion including NFIX associated with overgrowth and intellectual disability suggestive of Malan syndrome.A novel microdeletion/microduplication syndrome of 19p13.13.Behavioral characteristics associated with 19p13.2 microdeletions.Protein kinase N1 critically regulates cerebellar development and long-term function.Expanding the spectrum of rearrangements involving chromosome 19: a mild phenotype associated with a 19p13.12-p13.13 deletion.Perinatal findings in a patient with a novel large chromosome 19p deletion
P2860
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P2860
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
description
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name
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
@en
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
@nl
type
label
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
@en
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
@nl
prefLabel
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
@en
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
@nl
P2093
P2860
P356
P1476
A novel chromosome 19p13.12 deletion in a child with multiple congenital anomalies.
@en
P2093
A Craig Chinault
Daniel R Jensen
Ellen K Brundage
Friedhelm Hildebrandt
Marci M Lesperance
Moumita Chaki
Sau Wai Cheung
Stephen Gebarski
Trilochan Sahoo
P2860
P304
P356
10.1002/AJMG.A.32691
P407
P577
2009-03-01T00:00:00Z