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Nail dysplasia and digital hypoplasia ‒ Coffin-Siris syndrome.
An Bras Dermatol
August 2024
Dermatology Service, Miguel Servet University Hospital, Zaragoza, Spain.
Coffin-Siris syndrome (CSS) is a rare autosomal dominant inheritance disorder characterized by distinctive facial features, hypoplasia of the distal phalanx or nail of the fifth and additional digits, developmental or cognitive delay of varying degree, hypotonia, hirsutism/hypertrichosis, sparse scalp hair and varying kind of congenital anomalies. CSS can easily be misdiagnosed as other syndromes or disorders with a similar clinical picture because of their genetic and phenotypic heterogeneity. We describde the genotype-phenotype correlation of one patient from a healthy Chinese family with a novel genotype underlying CSS, who was first diagnosed in the ophthalmology department as early-onset high myopia (eoHM).
View Article and Find Full Text PDFIdentification of a novel de novo mutation in SOX4 for syndromic tooth agenesis.
Clin Oral Investig
April 2024
Department of General Dentistry, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Objectives: Coffin-Siris Syndrome (CSS) is a congenital disorder characterized by delayed growth, dysmorphic facial features, hypoplastic nails and phalanges of the fifth digit, and dental abnormalities. Tooth agenesis has been reported in CSS patients, but the mechanisms regulating this syndromic tooth agenesis remain largely unknown. This study aims to identify the pathogenic mutation of CSS presenting tooth genesis and explore potential regulatory mechanisms.
View Article and Find Full Text PDFOral and dental abnormalities in Coffin Siris syndrome : A new case report.
Tunis Med
April 2023
Dentofacial Orthopedics Department, Faculty of Dental Medicine of Rabat, Mohammed V University in Rabat, Morocco.
Introduction: Coffin-Siris Syndrome (CSS) is a rare genetic disorder of unknown etiology. It combines digital-ungual abnormalities, facial dysmorphism, developmental and intellectual delay, and other organ-system abnormalities. Oral and dental anomalies are rarer.
View Article and Find Full Text PDFThe Nail in the Coffin?: Examining the KEYNOTE-789 Clinical Trial's Impact.
Lung Cancer (Auckl)
January 2024
Department of Medicine, Division of Hematology-Oncology, University of California Irvine School of Medicine, Orange, CA, USA.
Targeted therapies, such as epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs), have revolutionized the treatment landscape for EGFR-mutant non-small cell lung cancer (NSCLC). However, the emergence of resistance to EGFR TKIs especially the third generation TKIs such as osimertinib remains a major clinical challenge. As a broader strategy for combating resistance, several clinical trials have explored the efficacy of immune checkpoint inhibitors (ICIs)+chemotherapy in EGFR-mutated NSCLC.
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