نتایج جستجو برای: incomplete penetrance

تعداد نتایج: 61081  

Journal: :journal of dentistry, tehran university of medical sciences 0
jb taheri m baharvand ar vahidi-ghahrodi

fusion is a developmental anomaly defined as the :union: of two normally separated tooth buds or the partial splitting of one tooth bud into two buds. depending on the stage of development, fusion may be either complete or incomplete. the significance of this particular case was that this fusion occurred in a posterior permanent mandibular tooth, while such a manifestation is more reported in m...

2014
H. Schwarzenbacher H. Pausch

Bovine Spastic Paresis is a neuromuscular disorder seen sporadically in many cattle breeds. It is characterized by a progressive unilateral or bilateral hyperextension of the rear limbs. A genetic background of the trait appears unquestionable and most authors postulate recessive inheritance with incomplete penetrance. In this study we carried out a genome-wide association study including 96 AI...

2012

The penetrance of a particular genotype at a disease locus is the probability that individuals possessing that genotype will develop the disease. More rigorously, the pentrance of a genotype-phenotype pair is defined as the probability that an individual would have the phenotype given that they have the genotype. The penetrance of a disease is said to be incomplete (or partial, or reduced) if n...

Journal: :Journal of disease markers 2023

Carney-Stratakis Syndrome (CSS), first described in 2002 [1], encompasses Gastrointestinal Stromal Tumors (GISTs) and Paragangliomas (PGLs) has autosomal dominant inheritance with incomplete penetrance [2]. Germline mutations of Succinate Dehydrogenase (SDH) complex subunits consequent SDH functional deficiency have been identified as responsible for CSS [3]. Here, we present a case new mutatio...

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