Results 31 to 40 of about 24,057 (201)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello +10 more
wiley +1 more source
Гений oртопедии, 2023 Introduction Pseudarthrosis and bone defects are the most common consequence of neurofibromatosis type I in children, a rare hereditary disease. Destruction of bone tissue leads to severe deformities and impaired function of the limbs.
Sergey I. Golyana +3 more
doaj +1 more source
Piebaldism with Neurofibromatosis Type I: A Familial Case [PDF]
Annals of Dermatology, 2014 Dear Editor: Piebaldism is characterized by the congenital absence of melanocytes in affected areas of the skin and hair due to a mutation of the c-kit proto-oncogene, which affects melanoblast differentiation and migration1. This mutation is inherited as an autosomal dominant trait. Clinically, piebaldism is characterized by stable, persistent, and
Park, Sang-Yeon +2 more
openaire +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio +11 more
wiley +1 more source
Glomus Tumors and Neurofibromatosis: A Newly Recognized Association
Plastic and Reconstructive Surgery, Global Open, 2014 Background: Glomus tumors are painful benign tumors arising from the neuromyoarterial elements of the glomus body, typically in a subungual location. Historically, glomus tumors have been considered isolated or sporadic, not typically associated with ...
Bridget Harrison, MD, Douglas Sammer, MD
doaj +1 more source
MEKK2 mediates aberrant ERK activation in neurofibromatosis type I
Nature Communications, 2020 Neurofibromatosis type I (NF1) is characterized by prominent skeletal abnormalities mediated in part by aberrant ERK pathway activation due to NF1 loss-of-function.
Seoyeon Bok +12 more
doaj +1 more source
Pulmonary Hypertension in Patients With Neurofibromatosis Type I
Medicine, 2011 Neurofibromatosis type I (NF1) is a rare genetic disease caused by mutations in the NF1 gene, which codes for tumor suppressor neurofibromin. NF1 is transmitted as an autosomal dominant and fully penetrant trait with no sex predominance. Precapillary pulmonary hypertension (PH) is a severe complication of NF1, initially described in patients with ...
David, Montani +22 more
openaire +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Tuberous sclerosis complex (TSC) is a genetic condition with multisystem neurocutaneous signs, including hamartomas, epilepsy, and neuropsychological difficulties. Although sleep disorders are increasingly recognized in TSC, they remain poorly described in adults.
Kirstin A. Risgaard +6 more
wiley +1 more source
Oral manifestations in neurofibromatosis type I: A case report
Journal of Indian Academy of Oral Medicine and Radiology, 2014 Neurofibroma is a benign peripheral nerve sheath tumor, which is one of the most frequent tumors of neural origin. The diagnosis of type 1 neurofibromatosis (NF-I) can be made if there is presence of a neurofibroma. Neurofibromatosis type 1 occurs due to
Ashwinirani Suragimath +3 more
doaj +1 more source
Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston +6 more
wiley +1 more source