scholarly journals Congenital hypopituitarism due to novel compound heterozygous POU1F1 gene mutation: A case report and review of the literature

2021 ◽  
Vol 29 ◽  
pp. 100819
Author(s):  
Wei-Yu Chen ◽  
Dau-Ming Niu ◽  
Li-Zhen Chen ◽  
Chia-Feng Yang
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Compound Heterozygous ◽  
Review Of The Literature ◽  
Pou1f1 Gene ◽  
Congenital Hypopituitarism

scholarly journals Sertoli-Leydig Cell Tumour and DICER1 Mutation: A Case Report and Review of the Literature

2018 ◽  
Vol 2018 ◽  
pp. 1-4
Author(s):  
B. Wormald ◽  
S. Elorbany ◽  
H. Hanson ◽  
J. W. Williams ◽  
S. Heenan ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Leydig Cell ◽  
Autosomal Dominant ◽  
Review Of The Literature ◽  
Autosomal Dominant Fashion ◽  
Rare Tumours ◽  
Leydig Cell Tumour ◽  
Underlying Pathology ◽  
Leydig Cell Tumours

Sertoli-Leydig cell tumours of the ovary (SLCT) are rare tumours predominantly caused by mutations in the DICER1 gene. We present a patient with a unilateral SLCT who had an underlying germline DICER1 gene mutation. We discuss the underlying pathology, risks, and screening opportunities available to those with a mutation in this gene as SLCT is only one of a multitude of other tumours encompassing DICER1 syndrome. The condition is inherited in an autosomal dominant fashion. As such, genetic counselling is a key component of the management of women with SLCT.

scholarly journals A novel PDCD10 gene mutation in cerebral cavernous malformations: a case report and review of the literature

2019 ◽  
Vol Volume 12 ◽  
pp. 1127-1132 ◽  
Author(s):  
Weiwei Yu ◽  
Haiqiang Jin ◽  
Qian You ◽  
Ding Nan ◽  
Yining Huang
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Cerebral Cavernous Malformations ◽  
Review Of The Literature ◽  
Cavernous Malformations

scholarly journals Congenital Hypopituitarism due to POU1F1 Gene Mutation

2011 ◽  
Vol 110 (1) ◽  
pp. 58-61 ◽  
Author(s):  
Ni-Chung Lee ◽  
Wen-Yu Tsai ◽  
Shinn-Forng Peng ◽  
Yi-Ching Tung ◽  
Yin-Hsiu Chien ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Pou1f1 Gene ◽  
Congenital Hypopituitarism

scholarly journals Novel compound heterozygous GPR56 gene mutation in a twin with lissencephaly: A case report

2022 ◽  
Vol 10 (2) ◽  
pp. 607-617
Author(s):  
Wen-Xin Lin ◽  
Ying-Ying Chai ◽  
Ting-Ting Huang ◽  
Xia Zhang ◽  
Guo Zheng ◽  
...  
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Compound Heterozygous

scholarly journals Must Peutz-Jeghers syndrome patients have the LKB1/STK11 gene mutation? A case report and review of the literature

2018 ◽  
Vol 6 (8) ◽  
pp. 224-232 ◽  
Author(s):  
Fu-Xiao Duan ◽  
Guo-Li Gu ◽  
Hai-Rui Yang ◽  
Peng-Fei Yu ◽  
Zhi Zhang
Keyword(s):  
Case Report ◽  
Gene Mutation ◽  
Review Of The Literature ◽  
Stk11 Gene ◽  
Peutz Jeghers Syndrome
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