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Intragenic Deletion in MACROD2: A Family with Complex Phenotypes Including Microcephaly, Intellectual Disability, Polydactyly, Renal and Pancreatic Malformations.
Lombardo, Barbara; Esposito, Daniela; Iossa, Sandra; Vitale, Andrea; Verdesca, Francesco; Perrotta, Carla; Di Leo, Luca; Costa, Valerio; Pastore, Lucio; Franzé, Annamaria.
Cytogenet Genome Res ; 158(1): 25-31, 2019.
Article in En | MEDLINE | ID: mdl-31055587
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pancreas / Abnormalities, Multiple / Sequence Deletion / Polydactyly / DNA Repair Enzymes / Hydrolases / Kidney / Intellectual Disability / Microcephaly Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Cytogenet Genome Res Journal subject: GENETICA Year: 2019 Document type: Article Country of publication: Suiza
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Pancreas / Abnormalities, Multiple / Sequence Deletion / Polydactyly / DNA Repair Enzymes / Hydrolases / Kidney / Intellectual Disability / Microcephaly Type of study: Prognostic_studies Limits: Adult / Female / Humans / Male Language: En Journal: Cytogenet Genome Res Journal subject: GENETICA Year: 2019 Document type: Article Country of publication: Suiza