A novel mutation of X‐linked recessive deafness gene POU3F4 in a boy with congenital deafness
Sign Up to like & getrecommendations! Published in 2022 at "Laryngoscope Investigative Otolaryngology"
DOI: 10.1002/lio2.850
Abstract: To report an interstitial deletion of Xq21.1 in chromosome X in a boy with congenital deafness. read more here.
Keywords: mutation linked; novel mutation; congenital deafness; linked recessive ... See more keywords
Amyotrophic lateral sclerosis due to a SOD1 mutation and X-linked recessive bulbospinal neuronopathy in a single family
Sign Up to like & getrecommendations! Published in 2019 at "Acta Neurologica Belgica"
DOI: 10.1007/s13760-019-01124-4
Abstract: Both amyotrophic lateral sclerosis (ALS) and X-linked recessive bulbospinal neuronopathy (Kennedy disease, KD) are related motor neuron degenerations characterized by progressive weakness, skeletal muscle wasting, dysarthria, and dysphagia [1]. However, ALS is fatal due to… read more here.
Keywords: linked recessive; recessive bulbospinal; amyotrophic lateral; bulbospinal neuronopathy ... See more keywords
G234(P) Nephrogenic diabetes insipidus in a female infant
Sign Up to like & getrecommendations! Published in 2019 at "Archives of Disease in Childhood"
DOI: 10.1136/archdischild-2019-rcpch.228
Abstract: Aim Nephrogenic Diabetes Insipidus (NDI) is rare. 90% of cases are due to a defect in the AVPR2 gene which is widely believed to be inherited in an X-linked recessive pattern; from asymptomatic carrier mothers,… read more here.
Keywords: avpr2 gene; g234 nephrogenic; linked recessive; nephrogenic diabetes ... See more keywords
Case Report: BCG-Triggered Hemophagocytic Lymphohistiocytosis in an Infant With X-Linked Recessive Mendelian Susceptibility to Mycobacterial Disease Due to a Variant of Chronic Granulomatous Disease
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2021.687538
Abstract: In the United Arab Emirates, BCG (Bacillus Calmette-Guérin) is administered to all newborns. We present here a young infant with an inborn error of immunity (IEI) who developed fatal adverse events to this live-attenuated vaccine.… read more here.
Keywords: granulomatous disease; chronic granulomatous; linked recessive; disease ... See more keywords
Skewed X-Chromosome Inactivation and Parental Gonadal Mosaicism Are Implicated in X-Linked Recessive Female Hemophilia Patients
Sign Up to like & getrecommendations! Published in 2022 at "Diagnostics"
DOI: 10.3390/diagnostics12102267
Abstract: Background: Hemophilia A (HA) and B (HB) are X-linked recessive disorders that mainly affect males born from a mother carrier. Females are rarely affected but a number of mechanisms have been suggested in symptomatic females,… read more here.
Keywords: chromosome inactivation; female patients; linked recessive; gonadal mosaicism ... See more keywords
An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms232113076
Abstract: Duchenne muscular dystrophy (DMD) is the most common inherited muscle dystrophy. Patients are characterized by muscle weakness, gross motor delay, and elevated serum creatinine kinase (CK) levels. The disease is caused by mutations in the… read more here.
Keywords: duchenne muscular; dystrophy; manifestation; ultra rare ... See more keywords
Clinical, Genetic and Functional Characterization of a Novel AVPR2 Missense Mutation in a Woman with X-Linked Recessive Nephrogenic Diabetes Insipidus
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm12010118
Abstract: Nephrogenic diabetes insipidus (NDI) is a rare disorder characterized by renal unresponsiveness to the hormone vasopressin, leading to excretion of large volumes of diluted urine. Mutations in the arginine vasopressin receptor-2 (AVPR2) gene cause congenital… read more here.
Keywords: diabetes insipidus; vasopressin; linked recessive; mutation ... See more keywords
Ocular findings and genomics of X-linked recessive disorders: A review
Sign Up to like & getrecommendations! Published in 2022 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_252_22
Abstract: Advent of new sequencing technologies and modern diagnostic procedures has opened the door for a deeper understanding of disorders about which little was known previously. Discovery of novel genes, new genetic variants in previously known… read more here.
Keywords: genomics linked; disorders review; findings genomics; ocular findings ... See more keywords