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X-linked adrenal hypoplasia congenita: Novel missense mutation of DAX-1 gene. 2019

Ángela Domínguez García, and Alfredo Santana Rodríguez, and María Fátima Cabrera Guedes
Unidad de Endocrinología Pediátrica, Complejo Hospitalario Universitario Insular-Materno Infantil, Las Palmas de Gran Canaria, Las Palmas, España. Electronic address: domgarang@gmail.com.

UI MeSH Term Description Entries
D007231 Infant, Newborn An infant during the first 28 days after birth. Neonate,Newborns,Infants, Newborn,Neonates,Newborn,Newborn Infant,Newborn Infants
D008297 Male Males
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000075262 Hypoadrenocorticism, Familial Hereditary forms of Addison disease that may exhibit autosomal recessive or X-linked inheritance. They are characterized by severe neurological symptoms, APNEA; and death in infancy. OMIM: 240200 AHC with Isolated Gonadotropin Deficiency,Addison Disease, X-Linked,Adrenal Hypoplasia, Congenital,Adrenal Hypoplasia, Congenital, with Hypogonadotropic Hypogonadism,Complex Glycerol Kinase Deficiency,Cytomegalic Adrenocortical Hypoplasia,Familial X-linked Addison Disease,X-linked Adrenal Hypoplasia,X-linked Congenital Adrenal Hypoplasia,Xp21 Contiguous Gene Deletion Syndrome,Addison Disease, X Linked,Adrenal Hypoplasia, X-linked,Congenital Adrenal Hypoplasia,Congenital Adrenal Hypoplasias,Cytomegalic Adrenocortical Hypoplasias,Familial Hypoadrenocorticism,Familial Hypoadrenocorticisms,Familial X linked Addison Disease,Hypoadrenocorticisms, Familial,Hypoplasia, Congenital Adrenal,X linked Adrenal Hypoplasia,X linked Congenital Adrenal Hypoplasia,X-Linked Addison Disease
D057137 DAX-1 Orphan Nuclear Receptor An orphan nuclear receptor that is implicated in regulation of steroidogenic pathways. It is unlike most orphan nuclear receptors in that it appears to lack an essential DNA-binding domain and instead acts as a transcriptional co-repressor. Mutations in the gene Dax-1 cause congenital adrenal hypoplasia. DSS-AHC Critical Region on the X Chromosome, Gene 1 Protein,NR0B1 Protein,Nuclear Receptor 0B1,Nuclear Receptor DAX-1,Nuclear Receptor NR0B1,Nuclear Receptor Subfamily 0, Group B, Member 1,DAX 1 Orphan Nuclear Receptor,DSS AHC Critical Region on the X Chromosome, Gene 1 Protein,Nuclear Receptor DAX 1
D020125 Mutation, Missense A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed) Missense Mutation,Missense Mutations,Mutations, Missense

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