Thelansis

  Gorlin syndrome, also known as Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome (BCNS), or basal cell nevus syndrome, is an autosomal dominant familial cancer syndrome. It manifests with numerous basal cell carcinomas (BCCs) and is accompanied by skeletal, ophthalmologic, and neurologic abnormalities. The syndrome gives rise to multiple neoplasms that initiate during childhood. The underlying cause of basal cell nevus syndrome is mutations within the patched (PTCH) gene. This gene encodes a transmembrane receptor responsible for recognizing sonic hedgehog signaling proteins. The syndrome demonstrates a high degree of penetrance while expressing variability in its presentation. Around 20% to 30% of BCNS cases are due to de novo mutations. Individuals harboring one mutated copy of the PTCH1 gene in each cell can exhibit Gorlin syndrome features early in life, including skeletal irregularities and macrocephaly. For basal cell carcinomas and other tumors to emerge, a mutatio

 Gorlin syndrome, also known as Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome (BCNS), or basal cell nevus syndrome, is an autosomal dominant familial cancer syndrome. It manifests with numerous basal cell carcinomas (BCCs) and is accompanied by skeletal, ophthalmologic, and neurologic abnormalities. The syndrome gives rise to multiple neoplasms that initiate during childhood. The underlying cause of basal cell nevus syndrome is mutations within the patched (PTCH) gene. This gene encodes a transmembrane receptor responsible for recognizing sonic hedgehog signaling proteins. The syndrome demonstrates a high degree of penetrance while expressing variability in its presentation. Around 20% to 30% of BCNS cases are due to de novo mutations. Individuals harboring one mutated copy of the PTCH1 gene in each cell can exhibit Gorlin syndrome features early in life, including skeletal irregularities and macrocephaly. For basal cell carcinomas and other tumors to emerge, a mutation m

Gorlin syndrome, also known as Gorlin-Goltz syndrome, nevoid basal cell carcinoma syndrome (BCNS), or basal cell nevus syndrome, is an autosomal dominant familial cancer syndrome. It manifests with numerous basal cell carcinomas (BCCs) and is accompanied by skeletal, ophthalmologic, and neurologic abnormalities. The syndrome gives rise to multiple neoplasms that initiate during childhood. The underlying cause of basal cell nevus syndrome is mutations within the patched (PTCH) gene. This gene encodes a transmembrane receptor responsible for recognizing sonic hedgehog signaling proteins. The syndrome demonstrates a high degree of penetrance while expressing variability in its presentation. Around 20% to 30% of BCNS cases are due to de novo mutations. Individuals harboring one mutated copy of the PTCH1 gene in each cell can exhibit Gorlin syndrome features early in life, including skeletal irregularities and macrocephaly. For basal cell carcinomas and other tumors to emerge, a mutation