Task: Answer Verification
Input (English): Question: Does partial Loss of Function of the GHRH Receptor lead to Mild Growth Hormone Deficiency?
Answer: We report the first coexistence of two novel compound homozygous GHRHR variants in two unrelated pedigrees associated with a partial loss of function. Surprisingly, the patients have a relatively mild IGHD phenotype. Analysis revealed that the pP79L mutation is associated with the compromise in function, with the residual partial activity explaining the mild phenotype.
Output (English): yes