Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism
- Location
-
Deutsche Nationalbibliothek Frankfurt am Main
- ISSN
-
2040-2392
- Extent
-
Online-Ressource
- Language
-
Englisch
- Notes
-
online resource.
- Bibliographic citation
-
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism ; volume:10 ; number:1 ; day:22 ; month:10 ; year:2019 ; pages:1-15 ; date:12.2019
Molecular autism ; 10, Heft 1 (22.10.2019), 1-15, 12.2019
- Creator
-
Kim, Hyung-Goo
Rosenfeld, Jill A.
Scott, Daryl A.
Bénédicte, Gerard
Labonne, Jonathan D.
Brown, Jason
McGuire, Marianne
Mahida, Sonal
Naidu, Sakkubai
Gutierrez, Jacqueline
Lesca, Gaetan
des Portes, Vincent
Bruel, Ange-Line
Sorlin, Arthur
Xia, Fan
Capri, Yline
Muller, Eric
McKnight, Dianalee
Torti, Erin
Rüschendorf, Franz
Hummel, Oliver
Islam, Zeyaul
Kolatkar, Prasanna R.
Layman, Lawrence C.
Ryu, Duchwan
Kong, Il-Keun
Madan-Khetarpal, Suneeta
Kim, Cheol-Hee
- Contributor
-
SpringerLink (Online service)
- DOI
-
10.1186/s13229-019-0286-0
- URN
-
urn:nbn:de:101:1-2020021602120888926649
- Rights
-
Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Last update
-
14.08.2025, 10:46 AM CEST
Data provider
This object is provided by:
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Deutsche Nationalbibliothek. If you have any questions about the object, please contact the data provider.
Associated
- Kim, Hyung-Goo
- Rosenfeld, Jill A.
- Scott, Daryl A.
- Bénédicte, Gerard
- Labonne, Jonathan D.
- Brown, Jason
- McGuire, Marianne
- Mahida, Sonal
- Naidu, Sakkubai
- Gutierrez, Jacqueline
- Lesca, Gaetan
- des Portes, Vincent
- Bruel, Ange-Line
- Sorlin, Arthur
- Xia, Fan
- Capri, Yline
- Muller, Eric
- McKnight, Dianalee
- Torti, Erin
- Rüschendorf, Franz
- Hummel, Oliver
- Islam, Zeyaul
- Kolatkar, Prasanna R.
- Layman, Lawrence C.
- Ryu, Duchwan
- Kong, Il-Keun
- Madan-Khetarpal, Suneeta
- Kim, Cheol-Hee
- SpringerLink (Online service)
Other Objects (12)
The 50 Most Cited Papers in Craniofacial Anomalies and Craniofacial Surgery
Fetal craniofacial anomalies in amniotic band sequence
Craniofacial and Oral Manifestations of Non-Syndromic Hypodontia: A Review
Radial, renal and craniofacial anomalies: Baller-Gerold syndrome
Craniofacial bone anomalies related to cholesterol synthesis defects
Craniofacial anomalies : growth and development from a surgical perspective
11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies
Maxillary canine position of patients with non-syndromic craniofacial disorder: a retrospective evaluation of panoramic radiographs
Craniofacial morphological variability in orthodontic patients with non-syndromic orofacial clefts: an approach using geometric morphometrics
Facial asymmetry outcome of orthognathic surgery in mild craniofacial microsomia compared to non-syndromic class II asymmetry
Tooth agenesis in German orthodontic patients with non-syndromic craniofacial disorder: a retrospective evaluation of panoramic radiographs
Is the pattern of mandibular asymmetry in mild craniofacial microsomia comparable to non-syndromic class II asymmetry?
The 50 Most Cited Papers in Craniofacial Anomalies and Craniofacial Surgery
Fetal craniofacial anomalies in amniotic band sequence
Craniofacial and Oral Manifestations of Non-Syndromic Hypodontia: A Review
Radial, renal and craniofacial anomalies: Baller-Gerold syndrome
Craniofacial bone anomalies related to cholesterol synthesis defects
Craniofacial anomalies : growth and development from a surgical perspective
11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies
Maxillary canine position of patients with non-syndromic craniofacial disorder: a retrospective evaluation of panoramic radiographs
Craniofacial morphological variability in orthodontic patients with non-syndromic orofacial clefts: an approach using geometric morphometrics
Facial asymmetry outcome of orthognathic surgery in mild craniofacial microsomia compared to non-syndromic class II asymmetry
Tooth agenesis in German orthodontic patients with non-syndromic craniofacial disorder: a retrospective evaluation of panoramic radiographs
Is the pattern of mandibular asymmetry in mild craniofacial microsomia comparable to non-syndromic class II asymmetry?
The 50 Most Cited Papers in Craniofacial Anomalies and Craniofacial Surgery
Fetal craniofacial anomalies in amniotic band sequence
Craniofacial and Oral Manifestations of Non-Syndromic Hypodontia: A Review
Radial, renal and craniofacial anomalies: Baller-Gerold syndrome
Craniofacial bone anomalies related to cholesterol synthesis defects
Craniofacial anomalies : growth and development from a surgical perspective
11p11.12p12 duplication in a family with intellectual disability and craniofacial anomalies
Maxillary canine position of patients with non-syndromic craniofacial disorder: a retrospective evaluation of panoramic radiographs
Craniofacial morphological variability in orthodontic patients with non-syndromic orofacial clefts: an approach using geometric morphometrics
Facial asymmetry outcome of orthognathic surgery in mild craniofacial microsomia compared to non-syndromic class II asymmetry
Tooth agenesis in German orthodontic patients with non-syndromic craniofacial disorder: a retrospective evaluation of panoramic radiographs