19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype | Zendy

Abe Kikue Terada | Zendy; Rizzo Isabela M. P. O. | Zendy; Coelho Ana L. V. | Zendy; Sakai Nilo | Zendy; Carvalho Daniel R. | Zendy; SpeckMartins Carlos E. | Zendy

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19q13.11 microdeletion: Clinical features overlapping ectrodactyly ectodermal dysplasia‐clefting syndrome phenotype

Author(s) -

Abe Kikue Terada,

Rizzo Isabela M. P. O.,

Coelho Ana L. V.,

Sakai Nilo,

Carvalho Daniel R.,

SpeckMartins Carlos E.

Publication year - 2018

Publication title -

clinical case reports

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 0.21

H-Index - 9

ISSN - 2050-0904

DOI - 10.1002/ccr3.1600

Subject(s) - ectrodactyly , medicine , ectodermal dysplasia , phenotype , clinical phenotype , dermatology , dysplasia , genetics , pathology , gene , biology

Key Clinical Message We report a patient who was followed for a long time under an ectrodactyly ectodermal dysplasia‐clefting ( EEC ) syndrome and was subsequently diagnosed with a 19q13.11 microdeletion. After a review of the related literature, we suggest testing patients with EEC for 19q13.11 microdeletion and include WTIP and UBA 2 to a minimal overlapping region.

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