Nomenclature and definition in asymmetric regional body overgrowth
| العنوان: | Nomenclature and definition in asymmetric regional body overgrowth |
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| المؤلفون: | Lidia Larizza, Giovanni Battista Ferrero, Raoul C.M. Hennekam, Silvia Russo, Angelo Selicorni, Leslie G. Biesecker, Jennifer M. Kalish, Frédéric Brioude, Peter N. Robinson, Matthew A. Deardorff, Alessandra Di Cesare-Merlone, Alessandro Mussa, Pablo Lapunzina, Todd E. Druley, Marina Macchiaiolo, Saskia M. Maas, Eamonn R. Maher, Silvia Maitz, Julian A. Martinez-Agosto |
| المساهمون: | Maher, Eamonn [0000-0002-6226-6918], Apollo - University of Cambridge Repository, ANS - Complex Trait Genetics, Human Genetics, APH - Quality of Care, Paediatric Genetics |
| المصدر: | American journal of medical genetics. Part A, 173(7), 1735-1738. Wiley-Liss Inc. Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid Consejería de Sanidad de la Comunidad de Madrid |
| سنة النشر: | 2017 |
| مصطلحات موضوعية: | 0301 basic medicine, medicine.medical_specialty, Pathology, Beckwith–Wiedemann syndrome, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, isolated lateralized overgrowth, Genetics, medicine, Nomenclature, Hemihypertrophy, Genetics (clinical), lateralized overgrowth, Genetic heterogeneity, business.industry, isolated unilateral overgrowth, isolated hemihypertrophy, isolated hemihyperplasia, segmental overgrowth, respiratory system, medicine.disease, respiratory tract diseases, Beckwith-Wiedemann syndrome, Isolated hemihyperplasia, Isolated hemihypertrophy, Isolated lateralized overgrowth, Isolated unilateral overgrowth, Lateralized overgrowth, Segmental overgrowth, 030104 developmental biology, Endocrinology, Dysplasia, Etiology, business, 030217 neurology & neurosurgery |
| الوصف: | We designate a novel term “isolated lateralized overgrowth” (ILO) for the findings previously described as “isolated hemihypertrophy” and “isolated hemihyperplasia.” ILO is defined as lateralized overgrowth in the absence of a recognized pattern of malformations, dysplasia, or morphologic variants. ILO is likely genetically heterogeneous. Further study is required to determine more of the underlying genetic etiologies and potential associations with currently unrecognized patterns of malformation. |
| وصف الملف: | application/pdf |
| اللغة: | English |
| تدمد: | 1552-4825 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f2dcc8262747befda6a502db04c4a38Test https://doi.org/10.1002/ajmg.a.38266Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....0f2dcc8262747befda6a502db04c4a38 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15524825 |
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