A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region
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Letter to the editor regarding Disciglio et al.: interstitial 22q13 deletions not involving SHANK3 gene: a new contiguous gene syndromeExpression of SHANK3 in the Temporal Neocortex of Patients with Intractable Temporal Epilepsy and Epilepsy Rat Models.Identification of 22q13 genes most likely to contribute to Phelan McDermid syndrome.Framework for assessing individuals with rare genetic disorders associated with profound intellectual and multiple disabilities (PIMD): the example of Phelan McDermid Syndrome.Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome).
P2860
A patient with the classic features of Phelan-McDermid syndrome and a high immunoglobulin E level caused by a cryptic interstitial 0.72-Mb deletion in the 22q13.2 region
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A patient with the classic fea ...... deletion in the 22q13.2 region
@ast
A patient with the classic fea ...... deletion in the 22q13.2 region
@en
A patient with the classic fea ...... deletion in the 22q13.2 region
@nl
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label
A patient with the classic fea ...... deletion in the 22q13.2 region
@ast
A patient with the classic fea ...... deletion in the 22q13.2 region
@en
A patient with the classic fea ...... deletion in the 22q13.2 region
@nl
prefLabel
A patient with the classic fea ...... deletion in the 22q13.2 region
@ast
A patient with the classic fea ...... deletion in the 22q13.2 region
@en
A patient with the classic fea ...... deletion in the 22q13.2 region
@nl
P2093
P2860
P356
P1476
A patient with the classic fea ...... deletion in the 22q13.2 region
@en
P2093
Eve Õiglane-Shlik
Kati Kuuse
Kristi Simenson
P2860
P356
10.1002/AJMG.A.36358
P407
P577
2014-03-01T00:00:00Z