Prenatal‐onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation-Reference-Cited by-同舟云学术

Prenatal‐onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation

Published:2021-09-07 Issue:18 Volume:113 Page:1324-1332
ISSN:2472-1727
Container-title:Birth Defects Research
language:en
Short-container-title:Birth Defects Research

Author:

Chartier Suzanne¹^ORCID,Boutaud Lucile¹²^ORCID,Le Guillou Edouard³⁴^ORCID,Alby Caroline⁵,Billon Clarisse¹⁶^ORCID,Millischer Anne‐Elodie⁷^ORCID,Caillaud Catherine³⁴^ORCID,Galmiche Louise⁸^ORCID,Mechler Charlotte⁹^ORCID,Sonigo Pascale⁷,Boddaert Nathalie⁷^ORCID,Lyonnet Stanislas²^ORCID,Rondeau Sophie⁵^ORCID,Bole‐Feysot Christine¹⁰^ORCID,Masson Cécile¹¹^ORCID,Ville Yves²¹²^ORCID,Roth Philippe²¹²,Desguerre Isabelle²¹³^ORCID,Encha‐Razavi Férechté¹,Attie‐Bitach Tania¹²^ORCID

Affiliation:

1. Unité d'Embryofœtopathologie Hôpital Necker‐Enfants Malades, AP‐HP.Centre Paris France

2. Université de Paris, Imagine Institute, INSERM UMR 1163 Paris France

3. Service de Biochimie Métabolique Hôpital Necker‐Enfants Malades, AP‐HP.Centre Paris France

4. Université de Paris, Institut Necker Enfants Malades INSERM U1151 Paris France

5. Service de Génétique Moléculaire Hôpital Necker‐Enfants Malades, AP‐HP.Centre Paris France

6. Département de Génétique Hôpital Européen Georges Pompidou, APHP Paris France

7. Service de Radiologie Pédiatrique Hôpital Necker‐Enfants Malades, AP‐HP.Centre Paris France

8. Service d'Anatomo‐pathologie Hôpital Necker‐Enfants Malades, AP‐HP.Centre Paris France

9. Service de Fœtopathologie Hôpital Robert Debré, AP‐HP Paris France

10. Plateforme de Génomique Université de Paris, Imagine Institute, INSERM UMR 1163 Paris France

11. Plateforme de Bioinformatique, Structure Fédérative de Recherche Necker INSERM UMR1163, Université de Paris, Imagine Institute Paris France

12. Service d'Obstétrique, Maternité, Chirurgie, Médecine et Imagerie Fœtales Hôpital Necker‐Enfants Malades, AP‐HP.Centre Paris France

13. Service de Neurologie Pédiatrique Hôpital Necker‐Enfants Malades, AP‐HP.Centre Paris France

Publisher

Wiley

Subject

Health, Toxicology and Mutagenesis,Developmental Biology,Toxicology,Embryology,Pediatrics, Perinatology, and Child Health

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/bdr2.1950

Reference12 articles.

1. Human pathology in NCL

2. MRI in neuronal ceroid lipofuscinosis

3. Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD

4. Novel mutation and the first prenatal screening of cathepsin D deficiency (CLN10)

5. Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology

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