American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 291-299, February 2026.ABSTRACT Heterozygous pathogenic variants in TBX3 cause Ulnar‐Mammary syndrome (UMS). The phenotype is classically characterized by upper limb defects, apocrine/mammary gland hypoplasia, hypogonadism, and various midline defects. However, the clinical spectrum is highly variable, and some individuals may present with a mild or atypical presentation ...
Ziv Halperin, Karin Weiss
wiley +1 more source
Evaluation of Nasal Septal Body According to Body Mass Index and Nasal Septal Deviation Angle [PDF]
Kulak Burun Boğaz ve Baş Boyun Cerrahisi Dergisi, 2019 Selda KARGIN KAYTEZ +4 more
openaire +1 more source
Mortality Patterns and Phenotypic Clusters in Trisomy 13: A Population‐Based Study From Japan
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 329-338, February 2026.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
The Application of Mask Region-Based Convolutional Neural Networks in the Detection of Nasal Septal Deviation Using Cone Beam Computed Tomography Images: Proof-of-Concept Study. [PDF]
JMIR Form ResShetty S +8 more
europepmc +1 more source
[The clinic research of septoplasty according to different types of nasal septal deviation]. [PDF]
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi, 2020 He T, Deng G, Huang X, Jiang Y, Shi H.
europepmc +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 496-501, February 2026.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
The Possible Associations of Nasal Septal Deviation with Mastoid Pneumatization and Chronic Otitis. [PDF]
Open Access Maced J Med Sci, 2019 Sistani SS +3 more
europepmc +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio +12 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 407-418, February 2026.ABSTRACT Costello syndrome (CS) is a rare dominant HRAS RASopathy characterized by curly hair, cardiac abnormalities, craniofacial anomalies, and developmental delay. HRAS codon 58, 59, and 60 variants are associated with milder phenotypes. We describe a three‐generation family with a previously unreported heterozygous HRAS variant c.175G>A (p.Ala59Thr)
Nikole Rautiainen +10 more
wiley +1 more source
Evaluation of nasal septal deviation and maxillary bone and nasal airway dimensions and volumes using cone-beam computed tomography in patients with unilateral palatal canine displacement: a retrospective study. [PDF]
Angle OrthodOsman SAA +6 more
europepmc +1 more source