Rash-Neurological Manifestations Syndrome Pelviscapular Dysplasia Pelvis-Shoulder Dysplasia Pentasomy X Peripheral Dysostosis Permanent Congenital Hypothyroidism Perrault
[familydiagnosis.com]
PAPPA in both maternal serum and placental tissue from Cornelia de Lange syndrome pregnancy Absent patellae Absent peroxisomes in skin fibroblasts liver renal Absent phalanges
[archive.li]
Yatziv, S., 1981: Familial pellagra-like skin rash with neurological manifestations Cousin, J.; Walbaum, R.; Cegarra, P.; Huguet, J.; Louis, J.; Pauli, A.; Fournier, A.
[eurekamag.com]