Spring til hovednavigation
Spring til søgning
Spring til hovedindhold
Region Hovedstadens forskningsportal Forside
Dansk
English
Søg efter indhold i Region Hovedstadens forskningsportal
Forside
Hospitaler/Afdelinger
Forskere
Publikationer
Aktiviteter
Priser
A complex phenotype in a family with a pathogenic SOX3 missense variant
Anne M Jelsig
,
Birgitte R Diness
, Sven Kreiborg
,
Katharina M Main
,
Vibeke A Larsen
,
Hanne Hove
Afdeling for Genetik DIA
Afdeling for Vækst og Reproduktion JMC
Afdeling for Røntgen og Skanning DIA
Afdeling for Børn og Unge JMC
14
Citationer (Scopus)
Oversigt
Fingeraftryk
Fingeraftryk
Dyk ned i forskningsemnerne om 'A complex phenotype in a family with a pathogenic SOX3 missense variant'. Sammen danner de et unikt fingeraftryk.
Sorter
Vægt
Alfabetisk
Keyphrases
Complex Phenotypes
100%
SOX3
100%
Missense Variant
100%
Germline Mosaicism
50%
Clinical Features
25%
Duplication
25%
Healthy Women
25%
X-linked
25%
Hypopituitarism
25%
Growth Hormone Deficiency
25%
Point mutation
25%
Microcephaly
25%
Microphthalmia
25%
Mild Intellectual Disability
25%
Whole Exome Sequencing
25%
Retrognathia
25%
Coloboma
25%
Segregation Analysis
25%
X-linked Mental Retardation
25%
Panhypopituitarism
25%
Dental Anomalies
25%
Maternal Grandmothers
25%
Solitary Median Maxillary Central Incisor
25%
Facial Dysmorphology
25%
Pathogenic Variants
25%
Extremely Rare
25%
Biochemistry, Genetics and Molecular Biology
Missense
100%
SOX3
100%
Germline Mosaicism
50%
Point Mutation
25%
Exome Sequencing
25%
Isolated Growth Hormone Deficiency
25%
Intellectual Disability
25%