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Titlebook: Genetic Syndromes; A Comprehensive Refe Nima Rezaei Living reference work 2025Latest edition Congenital Malformations.Congenital Abnormali

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书目名称Genetic Syndromes
副标题A Comprehensive Refe
编辑Nima Rezaei
视频video
概述Covers the full spectrum of congenital syndromes.Discusses epidemiological aspects, genetic and etiology of congenital syndromes.Provides a system-specific classification for all congenital syndromes
图书封面Titlebook: Genetic Syndromes; A Comprehensive Refe Nima Rezaei Living reference work 2025Latest edition  Congenital Malformations.Congenital Abnormali
描述.This comprehensive reference work covers the full range of congenital syndromes. The first section uses a general approach discussing broad topics such as worldwide prevalence and possible etiologies of congenital syndromes including genetics, epigenetics and environmental factors. As well as the most common inheritance patterns of congenital syndromes. The next part of the work is organised in sections based on system specified classification of congenital syndromes. The main characteristics of each syndrome are summarized,  including background and history, other name, etiology (genetics, epigenetics, and environment), clinical presentation, diagnosis, treatment, follow-up and prognosis, and differential diagnosis..Covering all known congenital syndromes and defining their characteristics, this book is the ultimate reference for clinicians, researchers, and students primary in the fields of genetics and pediatrics but also in other fields as it covers the syndromes of all systems. This book is particularly useful for clinicians in diagnostic and therapeutic approaches to patients. With its apposite and easy-to-use classification this reference work offers straight-forward access
出版日期Living reference work 2025Latest edition
关键词Congenital Malformations; Congenital Abnormalities; birth defects; genetics; congenital defects; inherita
doihttps://doi.org/10.1007/978-3-319-66816-1
isbn_ebook978-3-319-66816-1
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3-Methycrotonyl-CoA Carboxylase Deficiency: Types I and II,et al. 2001). Being a biotin-dependent enzyme, it can also be affected by inborn errors of biotin metabolism, such as multiple carboxylase or biotinidase deficiencies (Zempleni et al. 2019). Isolated 3-MCCD is subtyped as type I (OMIM #210200) and type II (OMIM #210210) based on the deficient subuni
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,46, XY Sex Reversal (SRXY): Types 1–11,fected individuals are phenotypically normal females with XY karyotypes at birth. They have well-developed Mullerian structures and bilateral streak gonads instead of functional ovaries or testes; therefore, they do not develop secondary sexual characteristics and do not menstruate. People with Swye
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Acephalic Spermatozoa Syndrome,ressive motility (Perotti and Gioria 1981). Most tails had normal structures with proximal centriole at anterior end covered by continuous plasma membrane (Perotti et al. 1981). Acephalic spermatozoa syndrome is a rare but severe type of monomorphic teratozoospermia (which is defined as the presence
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