De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 521-530, February 2026.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
Sensorineural deafness inherited as a tissue specific mitochondrial disorder. [PDF]
, 1992 Lutfi Jaber +6 more
openalex +1 more source
A Novel Missense Variant in LMX1A Leads to Autosomal Dominant Nonsyndromic Hearing Loss
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 531-534, February 2026.ABSTRACT Hereditary nonsyndromic hearing loss (NSHL) is a prevalent entity associated with over 150 known causative genes, including LMX1A, which has fewer than 10 reported pathogenic variants. Here we present a novel missense variant in LMX1A in a family of European descent with hereditary hearing loss. Clinical and family histories were obtained, and
Ryan Chen +3 more
wiley +1 more source
Surgical Management of a Cerebellopontine Angle Tumor After Sudden Onset Facial Paralysis
The Laryngoscope, Volume 136, Issue 2, Page 972-976, February 2026.Patients with cerebellopontine angle tumors rarely experience acute facial weakness. In this report, we summarize a case where immediate tumor decompression after a patient presented with sudden ipsilateral flaccid facial palsy resulted in complete recovery of facial nerve function, followed by staged gross total tumor resection. Return of facial nerve
Leo L. T. Meller +4 more
wiley +1 more source
Increased Risk of Cholesteatoma in Individuals With Alpha‐1 Antitrypsin Deficiency: A Cohort Study
The Laryngoscope, Volume 136, Issue 2, Page 955-960, February 2026.Patients with AATD had a 3.6‐fold increased risk of cholesteatoma surgery (HR: 3.62) compared to controls. These findings suggest that AATD may contribute to the development of cholesteatoma. ABSTRACT Objective To estimate the risk of cholesteatoma in patients with alpha‐1 antitrypsin deficiency (AATD) compared to the general population using time‐to ...
Abdulla Ali +3 more
wiley +1 more source
EFFECT OF SENSORINEURAL HEARING LOSS ONTHE TIME-COMPRESSED SPEECH TEST [PDF]
, 2012 Franz Zenker Castro +5 more
openalex +1 more source
Sterile Nasal Septal Abscess in Ulcerative Colitis With Crypt Abscess‐Like Neutrophilic Infiltration
The Laryngoscope, Volume 136, Issue 2, Page 678-682, February 2026.We report a rare case of sterile nasal septal abscess in a patient with ulcerative colitis. Histopathological analysis revealed crypt abscess‐like neutrophilic infiltration in the nasal mucosal glands, resembling a typical feature of ulcerative colitis.
Masakazu Murayama +3 more
wiley +1 more source
Retinitis pigmentosa and sensorineural deafness associated with a <i>de novo DHX16</i> mutation: case report. [PDF]
Front GenetWang L +7 more
europepmc +1 more source
Emergency Medicine Australasia, Volume 38, Issue 1, February 2026.ABSTRACT Objective To develop a clearer understanding of what ‘quality in emergency care’ means from the perspective of patients and families to assist with the development of consumer‐informed measures of quality for emergency care in an Australian setting.
Emma Solly +6 more
wiley +1 more source
Genetics of Waardenburg Syndrome in Africa: A Systematic Review. [PDF]
Int J Mol SciAboagye ET +4 more
europepmc +1 more source