Results 61 to 70 of about 16,006 (225)
Developmental Dynamics, EarlyView.Abstract Background Endocytosis constitutes a fundamental cellular process governing development through coordinated regulation of plasma membrane remodeling and ciliogenesis, processes essential for cell shape changes and tissue development. Although Twist1 null embryos display complete cranial neural tube (NT) closure defects and conditional knockout
Derrick Thomas +8 more
wiley +1 more source
First report of tethered cord syndrome in a patient with Sotos syndrome
BMC Pediatrics, 2020 Background Sotos syndrome is caused by a gene deletion with an autosomal dominant pattern of inheritance. The Sotos syndrome was first described by Juan Sotos. Cole and Hughes identified the clinical characteristics of this syndrome.
Pelin Kuzucu +2 more
doaj +1 more source
Congenital hydrocephalus in an Egyptian baby with trisomy 18: a case report [PDF]
, 2009 Introduction Trisomy 18 is the second most common autosomal trisomy after Down syndrome (trisomy 21). A variety of anomalies of the central nervous system are observed in cases of trisomy 18.
Kotb A Metwalley +2 more
core +2 more sources
Epileptic Disorders, EarlyView.Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley +1 more source
Airway Involvement in Conradi–Hünermann–Happle Syndrome: A Novel Clinical Manifestation
The Laryngoscope, EarlyView.We report the first documented case of airway involvement in Conradi–Hünermann–Happle syndrome (CDPX2), an X‐linked dominant form of chondrodysplasia punctata caused by pathogenic variants in EBP. A 2‐month‐old female with genetically confirmed CDPX2 developed severe subglottic stenosis and persistent respiratory distress requiring CPAP; cross ...
Enrique G. Villarreal +3 more
wiley +1 more source
The acrocallosal syndrome: A case report and literature survey [PDF]
, 2009 Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis ...
Davies, Lindsey +2 more
core +1 more source
A novel de novo deletion of chromosome 7 [46,XX,del(7)(p14.2 p15.1)] in a child with feeding problems [PDF]
, 2012 We would like to thank the patient's family for consenting to this publication and for their kind cooperation during the clinical investigations of their child. The authors also thank Professor Patrícia Maciel, Fátima Lopes and Dr. L. Van Maldergem for
Aughton +14 more
core +3 more sources
Evolving Features of RASopathies Among Pregnancies With Abnormal Fetal Fluid Collections
Prenatal Diagnosis, EarlyView.ABSTRACT Objective We aimed to characterize the fetal features across gestation and describe genotype‐phenotype correlations for pregnancies with fetal RASopathies that were more severely affected as they presented with at least one abnormal fluid collection.
Natalie B. Gulrajani +17 more
wiley +1 more source
GAPO Syndrome – Diagnosis of a Rare Case Report and Review
Journal of Indian Academy of Oral Medicine and RadiologyGAPO syndrome is an unusual genetic disorder with an autosomal recessive trait inheritance. The syndrome is caused due a genetic defect or alterations in the ANTXR1/TEM8 gene.
Sindhu Vijayakumar +1 more
doaj +1 more source