@article{rolland:hal-03610866,
TITLE = {Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report},
AUTHOR = {Rolland, Marion and Dubourg, Christ{\`e}le and Cospain, Auriane and Droitcourt, Catherine and Pasquier, Laurent},
URL = {https://hal.science/hal-03610866},
JOURNAL = {Pediatric Dermatology},
PUBLISHER = {Wiley},
VOLUME = {39},
NUMBER = {3},
PAGES = {434-437},
YEAR = {2022},
MONTH = Mar, DOI = {10.1111/pde.14969},
KEYWORDS = {PIGL ; CHIME syndrome ; case report ; neuroectodermal disorder},
PDF = {https://hal.science/hal-03610866/file/Rolland%20et%20al-2022-Child%20with%20a%20mild%20CHIME%20syndrome%20phenotype%20and%20carrying%20a%20novel%20p.%28Asp52Asn%29%20PIGL.pdf},
HAL_ID = {hal-03610866},
HAL_VERSION = {v1},
}