双边玻璃眼作为PGAP3相关的高光的可能的额外特征.
Osama Obaid1, Reem Batawi1, Heba Alqurashi1
1Department of Pediatrics, Maternity and Children Hospital, Makkah, Saudi Arabia.
Case reports in genetics
|April 1, 2024
概括
带有精神障碍的高酸症 (HPMRS) 是一种罕见的遗传性疾病. 这一案例突出显示了一名患有先天性玻璃眼的男孩中HPMRS类型-4的异常呈现,这表明了新的诊断考虑.
科学领域:
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
- 儿科眼科医生 儿科眼科医生
背景情况:
- 带有精神障碍的过光症 (HPMRS) 是一种罕见的自身相对衰退性疾病.
- 它是由影响脂质合成和重塑的基因突变引起的.
- HPMRS具有不同的临床表现.
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