Results 111 to 120 of about 343,859 (389)
Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Trisomy 13, the third most common autosomal trisomy after trisomy 21 and trisomy 18, is associated with a significantly high infant mortality rate. However, large‐scale studies examining causes of death in trisomy 13 remain scarce. Therefore, we aimed to better understand the mortality patterns.
Narumi Kato +2 more
wiley +1 more source
Journal of Oral Research, 2019 Malignant-or-paraneoplastic acanthosis nigricans is a verrucous and hyperpigmented tumor affecting the mucosa and skin. In most cases malignant acanthosis nigricans is a distant manifestation of an intra-abdominal primary cancer.
Francisca Donoso-Hofer +1 more
doaj +1 more source
A case report: retigabine induced oral mucosal dyspigmentation of the hard palate [PDF]
, 2015 Background Dyspigmentation of the oral mucosa has a multitude of aetiological causes. Retigabine, a new antiepileptic drug, has the potential side effect of inducing a blue/purple pigmentation of the oral mucosa in addition to the skin, lips, nails and ...
Beacher, Nicholas G. +2 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Spondylocostal dysostosis (SCDO) is a rare genetic disorder characterized by abnormal development of the axial skeleton, resulting in malformations of the vertebrae and ribs that often impair lung development and lead to significant respiratory morbidity.
Jonathan Rips +8 more
wiley +1 more source
Bones, Glands, Ears and More: The Multiple Roles of FGF10 in Craniofacial Development
Frontiers in Genetics, 2018 Members of the fibroblast growth factor (FGF) family have myriad functions during development of both non-vertebrate and vertebrate organisms. One of these family members, FGF10, is largely expressed in mesenchymal tissues and is essential for postnatal ...
Michaela Prochazkova +3 more
doaj +1 more source
, 2017 The oral cavity is the first component of the digestive tract, which is delimited by the lips anteriorly and the oropharynx posteriorly. The oral cavity functions as a protective barrier and is an essential component for speech and swallowing ...
Burgess, Jeff +6 more
core +1 more source
De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil +8 more
wiley +1 more source
Myoepithlioma of Soft Palate: a case report
Journal of College of Medical Sciences-Nepal, 2018 Myoepithelioms are rare benign salivary gland tumors representing 1–1.5% of all salivary gland tumors. It was once considered to be one end of the histologic spectrum of pleomorphic adenoma (PA), but myoepitheliomas today are believed to be distinct ...
Radha Baral +3 more
doaj +1 more source
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm +2 more
wiley +1 more source