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Variable expressivity of Malan syndrome.
BMJ Case Rep
October 2024
Biochemistry, All India Institute of Medical Sciences, Kalyani, Kalyani, West Bengal, India
We describe the family of a patient with developmental delay, macrocephaly, dysmorphic facial features and autism. His mother also shared similar facial features and macrocephaly but not his neurobehavioural issues. Subsequently, both the child and his mother were found to have a heterozygous frameshift variant NFIX: c.
View Article and Find Full Text PDFPhenotypic Description of A Patient with ODLURO Syndrome and Functional Characterization of the Pathogenetic Role of A Synonymous Variant c.186G>A in Gene.
Genes (Basel)
March 2024
Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant disorder caused by mutations in the gene. The clinical phonotype of the affected individuals is typically characterized by global developmental delay, autism, epilepsy, hypotonia, macrocephaly, and very mild dysmorphic facial features. In this report, we describe the case of a 6-year-old boy with ODLURO syndrome who is a carrier of the synonymous mutation c.
View Article and Find Full Text PDFCorrelation analysis of maternal condition during pregnancy with head circumference and autism spectrum disorder: A propensity score-matched study.
Medicine (Baltimore)
February 2024
Department of Paediatrics, The Second Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong Province, People's Republic of China.
To determine whether health status during pregnancy is associated with autism spectrum disorder (ASD) and abnormal head circumference (HC) in the offspring. This study included 41 Han children with ASD who visited the Children's Health Clinic of the Second Hospital of Shandong University between March 2018 and February 2019, and 264 Han children with typical development (TD) who visited the clinic during the same period. Physical measurements were performed on the children.
View Article and Find Full Text PDF[Analysis of clinical features and genetic variant in a child with Cowden syndrome 1].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
February 2024
Ningbo Women and Children's Hospital, the Central Laboratory of Birth Defects Prevention and Control, Ningbo, Zhejiang 315012, China.
Objective: To explore the genetic etiology of a child with Cowden syndrome 1 (CS1).
Methods: A child who had visited the Ningbo Women and Children's Hospital on August 26, 2022 was selected as the study subject. Clinical information of the child was collected.
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