Identification of a locus for nongoitrous congenital hypothyroidism on chromosome 15q25.3-26.1

Permanent congenital hypothyroidism is the most prevalent inborn endocrine disorder, and principally due to developmental defects leading to absent, ectopic or hypoplastic thyroid gland. Although commonly regarded as sporadic disease, nonsyndromic thyroid hypoplasia has, in rare cases, been attribut...

Ausführliche Beschreibung

Gespeichert in:

Bibliographische Detailangaben
Veröffentlicht in:	Human genetics 2005-12, Vol.118 (3-4), p.348-355
Hauptverfasser:	GRASBERGER, Helmut, VAXILLAIRE, Martine, PANNAIN, Silvana, BECK, John C, MIMOUNI-BLOCH, Aviva, VATIN, Vincent, VASSART, Gilbert, FROGUEL, Philippe, REFETOFF, Samuel
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences Chromosomes Chromosomes, Human, Pair 15 Classical genetics, quantitative genetics, hybrids College campuses Congenital diseases Congenital Hypothyroidism Congenital Hypothyroidism - genetics DNA Mutational Analysis Endocrine disorders Endocrinopathies Female Fundamental and applied biological sciences. Psychology Genes Genetic aspects Genetic disorders Genetic Linkage Genetics Genetics of eukaryotes. Biological and molecular evolution Genomes Genomics Genotype Human Human genetics Humans Hypothyroidism Inheritance Patterns Life Sciences Linkage (Genetics) Male Medical sciences Mutation Non tumoral diseases. Target tissue resistance. Benign neoplasms Pediatrics Pedigree Thyroid gland Thyroid hormones Thyroid. Thyroid axis (diseases) Thyrotropin
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!

Schreiben Sie den ersten Kommentar!