Results 181 to 190 of about 491,700 (340)
Book Review: Lecture Notes on Diseases of the Ear, Nose and Throat [PDF]
, 1962 openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Hypoparathyroidism, sensorineural deafness, and renal dysplasia (HDR) syndrome is caused by pathogenic variants in the GATA3 gene located on chromosome 10p14. Here we present a 10‐year‐old girl with HDR syndrome who also has oligoarticular juvenile idiopathic arthritis (JIA).
Lauren N. Meiss +8 more
wiley +1 more source
Endolymphatic hydrops in the unaffected ear of patients with unilateral Ménière’s disease [PDF]
, 2022 Carlos Guajardo +5 more
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TSPEAR (chr. 21q22.3) encodes a protein involved in tooth development and is predominantly expressed in the enamel knot. Biallelic loss of function variants in TSPEAR cause ectodermal dysplasia, tooth agenesis and sensorineural hearing loss. However, the role of TSPEAR in auditory processes is unclear.
Debora Vergani +17 more
wiley +1 more source
[Advances in diagnosis and therapies of immune-mediated inner ear diseases]. [PDF]
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2020 Wang H, Wang D, Wang Q.
europepmc +1 more source
Nasal Mucociliary Function and Middle Ear Diseases in Patients with Cleft Palate.
, 1991 Yasuyuki Ishikawa +4 more
openalex +2 more sources
The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley +1 more source