P. Labrune

Extensive brain calcifications, leukodystrophy, and formation of parenchymal cysts

C. Lacroix, P. Landrieu, M. Zérah, 1996, Neurology.

Disease burden and management of Crigler‐Najjar syndrome: Report of a world registry

P. Bosma, K. Strauss, N. Brunetti‐Pierri, 2022, Liver international : official journal of the International Association for the Study of the Liver.

[Antley-Bixler syndrome. Description of two new cases and review of the literature. Prognostic and therapeutic aspects].

D. Rénier, G. Cinalli, P. Labrune, 1997, Annales de chirurgie plastique et esthetique.

Current therapy for Crigler‐Najjar syndrome type 1: Report of a world registry

P. Rosenthal, W. Sperl, J. Fevery, 1996, Hepatology.

CHARGE syndrome: report of 47 cases and review.

J L Michel, A. Munnich, N. Philip, 1998, American journal of medical genetics.

Antley-Bixler syndrome Description of two new cases and a review of the literature

D. Rénier, G. Cinalli, P. Labrune, 1997, Child's Nervous System.

EP12.01: Noonan syndrome: new features.

J. Roume, M. Senat, C. Colmant, 2016, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Binder phenotype: clinical and etiological heterogeneity of the so‐called Binder maxillonasal dysplasia in prenatally diagnosed cases, and review of the literature

R. Touraine, A. Verloes, M. Vazquez, 2009, Prenatal diagnosis.

Leukoencephalopathy with calcifications and cysts (LCC): 5 cases and literature review.

H. Chabriat, E. Tournier-Lasserve, C. Denier, 2020, Revue neurologique.