Matches in SemOpenAlex for { <https://semopenalex.org/work/W2371976952> ?p ?o ?g. }
Showing items 1 to 65 of
65
with 100 items per page.
- W2371976952 abstract "Objective pigmenti (IP) is a rare X-linked dominant disorder that affects ectodermal tissues. This study aims to analyze the NEMO mutation and clinical features of Chinese IP cases.Methods NEMO mutation and clinical features of seven IP inpatients from 2009 to 2012 of our hospital were analyzed. A literature search was performed using the search strategy of Incontinentia Pigmenti AND chinese among PubMed, Web of Science, CNKI, VIP from establishment of the database till now. Data of clinical features and NEMO mutation of Chinese IP cases were analyzed.Results Seven IP cases from our hospital manifested classic cutaneous features and neurological and ocular manifestations were also detected. The NEMO△4-10 deletion of the NEMO gene was detected in 5 (71.4% ) of 7 patients. In 2 patients without NEMO△4-10 deletion pathogenic mutations were not found in 10 exons, only a homozygous SNP was found in one patient. 76 IP patients including 68 females and 8 males had cutaneous manifestations (100%), 70 cases (92.1%) were found clinical manifestions in neonatal period. 16 cases(24.2%) had family history, 41 cases(53.9%) with combination of nerve system abnormalities, 16/66 cases(24.2%) with ocular manifestations, dental manifestations were observed in 19/48 cases (39.6%), hair abnormalities were found in 22/71 cases (31.0%), and 6 cases died (7.9%). Other manifestions included congenital heart disease, skeletal dyspalsia, annular pancreas and pulmonary cystic. A higher blood eosinophilia was observed in 58.3% IP cases. The positive rate of skin biopsy was 95.7%. 30 IP cases were detected with NEMO mutation (62.5%), 27 cases with NEMO△4-10 deletion, 3 cases were detected with pseudogene NEMO exon 4-10 deletion in those patients. Two cases were detected with point mutation and 1 case had single nucleotide deletion. Conclusions Chinese IP cases were mostly sporadic. Almost all patients were found with typical cutaneous manifestations at birth or shortly after birth. In addition to cutaneous manifestations, neurological and ocular manifestations are also detected. The positive rate of skin biopsy in China was as high as 95.7%, which is helpful to diagnosis. NEMO gene mutation detection ratio in China is about 62.5%, gene diagnosis and prenatal diagnosis may be reasonable for treatment and prognosis, and provide appropriate genetic counseling for family." @default.
- W2371976952 created "2016-06-24" @default.
- W2371976952 creator A5069352060 @default.
- W2371976952 date "2013-01-01" @default.
- W2371976952 modified "2023-09-25" @default.
- W2371976952 title "NEMO gene mutations and clinical manifestations in 7 neonatal patients with incontinentia pigmenti and literature review" @default.
- W2371976952 hasPublicationYear "2013" @default.
- W2371976952 type Work @default.
- W2371976952 sameAs 2371976952 @default.
- W2371976952 citedByCount "0" @default.
- W2371976952 crossrefType "journal-article" @default.
- W2371976952 hasAuthorship W2371976952A5069352060 @default.
- W2371976952 hasConcept C104317684 @default.
- W2371976952 hasConcept C142724271 @default.
- W2371976952 hasConcept C16005928 @default.
- W2371976952 hasConcept C187212893 @default.
- W2371976952 hasConcept C2775934546 @default.
- W2371976952 hasConcept C2777129736 @default.
- W2371976952 hasConcept C2780439664 @default.
- W2371976952 hasConcept C2780668358 @default.
- W2371976952 hasConcept C2994225774 @default.
- W2371976952 hasConcept C501734568 @default.
- W2371976952 hasConcept C54355233 @default.
- W2371976952 hasConcept C71924100 @default.
- W2371976952 hasConcept C86803240 @default.
- W2371976952 hasConceptScore W2371976952C104317684 @default.
- W2371976952 hasConceptScore W2371976952C142724271 @default.
- W2371976952 hasConceptScore W2371976952C16005928 @default.
- W2371976952 hasConceptScore W2371976952C187212893 @default.
- W2371976952 hasConceptScore W2371976952C2775934546 @default.
- W2371976952 hasConceptScore W2371976952C2777129736 @default.
- W2371976952 hasConceptScore W2371976952C2780439664 @default.
- W2371976952 hasConceptScore W2371976952C2780668358 @default.
- W2371976952 hasConceptScore W2371976952C2994225774 @default.
- W2371976952 hasConceptScore W2371976952C501734568 @default.
- W2371976952 hasConceptScore W2371976952C54355233 @default.
- W2371976952 hasConceptScore W2371976952C71924100 @default.
- W2371976952 hasConceptScore W2371976952C86803240 @default.
- W2371976952 hasLocation W23719769521 @default.
- W2371976952 hasOpenAccess W2371976952 @default.
- W2371976952 hasPrimaryLocation W23719769521 @default.
- W2371976952 hasRelatedWork W1595530661 @default.
- W2371976952 hasRelatedWork W1879790958 @default.
- W2371976952 hasRelatedWork W1964431614 @default.
- W2371976952 hasRelatedWork W1969829231 @default.
- W2371976952 hasRelatedWork W1988956387 @default.
- W2371976952 hasRelatedWork W2041823669 @default.
- W2371976952 hasRelatedWork W2058366040 @default.
- W2371976952 hasRelatedWork W2083840076 @default.
- W2371976952 hasRelatedWork W2094663915 @default.
- W2371976952 hasRelatedWork W2356352860 @default.
- W2371976952 hasRelatedWork W2358648117 @default.
- W2371976952 hasRelatedWork W2368752321 @default.
- W2371976952 hasRelatedWork W2369515376 @default.
- W2371976952 hasRelatedWork W2441583022 @default.
- W2371976952 hasRelatedWork W2531034372 @default.
- W2371976952 hasRelatedWork W2944878350 @default.
- W2371976952 hasRelatedWork W3002459840 @default.
- W2371976952 hasRelatedWork W3028780087 @default.
- W2371976952 hasRelatedWork W3046798485 @default.
- W2371976952 hasRelatedWork W3210828565 @default.
- W2371976952 isParatext "false" @default.
- W2371976952 isRetracted "false" @default.
- W2371976952 magId "2371976952" @default.
- W2371976952 workType "article" @default.