Co-occurrence of a maternally inherited DNMT3A duplication and a paternally inherited pathogenic variant in EZH2 in a child with growth retardation and severe short stature: atypical Weaver syndrome or evidence of a DNMT3A dosage effect?

Overgrowth syndromes are a clinically heterogeneous group of disorders characterized by localized or generalized tissue overgrowth and varying degrees of developmental and intellectual disability. An expanding list of genes associated with overgrowth syndromes include the histone methyltransferase g...

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Αποθηκεύτηκε σε:
Λεπτομέρειες βιβλιογραφικής εγγραφής
Τόπος έκδοσης:Cold Spring Harb Mol Case Stud
Κύριοι συγγραφείς: Polonis, Katarzyna, Blackburn, Patrick R., Urrutia, Raul A., Lomberk, Gwen A., Kruisselbrink, Teresa, Cousin, Margot A., Boczek, Nicole J., Hoppman, Nicole L., Babovic-Vuksanovic, Dusica, Klee, Eric W., Pichurin, Pavel N.
Μορφή: Artigo
Γλώσσα:Inglês
Έκδοση: Cold Spring Harbor Laboratory Press 2018
Θέματα:
Research Report
Διαθέσιμο Online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6071565/
https://ncbi.nlm.nih.gov/pubmed/29802153
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a002899
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