PONTOBULBAR PALSY AND NEUROSENSORY DEAFNESS (BROWN-VIALETTO-VANLAERE SYNDROME) WITH POSSIBLE AUTOSOMAL DOMINANT INHERITANCE
PONTOBULBAR PALSY AND NEUROSENSORY DEAFNESS (BROWN-VIALETTO-VANLAERE SYNDROME) WITH POSSIBLE AUTOSOMAL DOMINANT INHERITANCE
复制标题
DOI：
10.1136/jmg.27.3.176
复制
发表时间：
1990-03-01
影响因子：
4
通讯作者：
HARDING, AE
中科院分区：
文献类型：
--
作者：
HAWKINS, SA;NEVIN, NC;HARDING, AE
一名女性与布朗-Vialetto-货车Laere综合征的描述。患者的父亲，一位叔叔，可能还有一位堂兄弟姐妹患有神经感觉性耳聋，一位姑姑有表明该综合征的临床症状。这个家庭提出了这种疾病是遗传异质性的可能性，常染色体隐性和常染色体显性形式。或者，它可能是由X染色体上的突变基因引起的。
A female with the Brown-Vialetto-Van Laere syndrome is described. The patient''s father, a paternal uncle, and possibly a paternal first cousin had neurosensory deafness and a paternal aunt had clinical symptoms indicative of the syndrome. This family raises the possibility that the disorder is genetically heterogeneous with autosomal recessive and autosomal dominant forms. Alternatively, it could be caused by a mutant gene on the X chromosome.