Genomic coordinate 9:97,853,226
Here I present: “Bamforth-Lazarus Syndrome“, Victor McKusick, Mendelian Inheritance in Man’, 1966. (FOXE1) 班福斯-拉扎勒斯綜合徵 icd10=E03.1
INTRODUCTION.
Bamforth-Lazarus syndrome is an autosomal recessive disorder characterized by congenital hypothyroidism due to thyroid agenesis or thyroid hypoplasia, cleft palate, and spiky hair, with or without choanal atresia or bifid epiglottis.
Forkhead box protein-E1 (thyroid transcription factor-2) is a protein that in humans is encoded by the FOXE1 gene on cytogenetic 9q22.33 location and genomic coordinate 9:97,853,226.
There is evidence that Bamforth-Lazarus syndrome is caused by mutation in the FOXE1 gene of thyroid transcription factor-2 on genomic coordinate 9:97,853,226.
