[A case of Congenital disorder of glycosylation due to SSR4 gene deletion].

Objective: To explore the clinical and molecular characteristics of a child with Congenital disorders of glycosylation (CDG).

Methods: A 4-month-old boy who had presented at the Children's Hospital Affiliated to Zhejiang University Medical School on December 31, 2019 due to feeding difficulties after birth was selected as the study subject. High-throughput sequencing was carried out for the patient, and real-time qPCR was used for validating the suspected deletion fragments and the carrier status of other members of his family.

Epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction: a case report and review of the literature.

Background: Epidermal nevus syndrome is a group of congenital neuroectodermal and/or mesodermal disorders characterized by the epidermal nevi in common association with cerebral, eye, skeletal, cardiovascular, and renal abnormalities. Epidermal nevus syndrome is a rare syndrome, and epidermal nevus syndrome with the mutation of PTCH1 gene and cerebral infarction is even rarer and has not been reported to the best of our knowledge.

Case Presentation: We report the case of a 10-month-old Chinese female patient who presented to our pediatric neurologic department, University of Wenzhou medical teaching Hospital, Hangzhou.

A patient with pseudohypoparathyroidism type 1A previously misdiagnosed as hereditary multiple exostosis: A case report.

Pseudohypoparathyroidism type 1A (PHP1A), a rare hereditary disorder, is featured by end-organ resistance to parathyroid hormone and Albright's hereditary osteodystrophy. Heterozygous mutation of guanine nucleotide-binding protein α stimulating () gene causes the half decreased bioactivity of the Gsα protein levels. Due to the diverse early clinical manifestations of PHP1A, a diagnosis of PHP1A is often easily overlooked and misdiagnosis or missed diagnosis is common.

Genetic differentiation of following the introduction into Taiwan.

The economically important plant pathogen has been reported in multiple regions of the globe during the last two decades, threatening a growing list of plants. Particularly, subspecies causes Pierce's disease (PD) of grapevines, which is a problem in the USA, Spain, and Taiwan. In this work, we studied PD-causing subsp.

Complete Genome Sequence of and Comparative Analysis of Virulence Gene Content With .

The bacterial genus contains plant pathogens that are major threats to agriculture in America and Europe. Although extensive research was conducted to characterize different subspecies of (), comparative analysis at above-species levels was lacking due to the unavailability of appropriate data sets. Recently, a bacterium that causes pear leaf scorch (PLS) in Taiwan was described as the second species (i.