Mutations in the ADNP gene cause were reported in patients with autism and other shared clinical characteristics, including intellectual disability and facial dysmorphisms. Currently, 10 patients have been reported.
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B. de Vries
Geert G●●●●●●●lein 10
nij●●●gen , Unknown, 6525GA
NL
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B. de Vries
Geert G●●●●●●●lein 10
nij●●●gen , Unknown, 6525GA
NL
View this contact
B. de Vries
Geert G●●●●●●●lein 10
nij●●●gen , Unknown, 6525GA
NL
View this contact
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Home | adnpgene.com Reviews
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Mutations in the ADNP gene cause were reported in patients with autism and other shared clinical characteristics, including intellectual disability and facial dysmorphisms. Currently, 10 patients have been reported.
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Clinical features
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The transcriptional regulator ADNP links the BAF (. Am J Med Gen. 2014 Aug. Expansion of the clinical phenotype associated wit. J Med Genet. 2014 Jul. We are currently working on the questionnaire. Questions might be moved/added/deleted. We suggest you postpone submissions untill this note is gone. Frequency of major clinical findings of the ADNP gene. Inheritance: de novo (31/33). Birth weight: p3-p97 (23/26). Head circumference: p3-p97 (24/29). Growth retardation / short stature (17/29). Bull; yes, at.
Publications
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The transcriptional regulator ADNP links the BAF (. Am J Med Gen. 2014 Aug. Expansion of the clinical phenotype associated wit. J Med Genet. 2014 Jul. The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. Vandeweyer G, Helsmoortel C, Van Dijck A, Vulto-van Silfhout AT, Coe BP, Bernier R, Gerdts J, Rooms L, van den Ende J, Bakshi M, Wilson M, Nordgren A, Hendon LG, Abdulrahman OA, Romano C, de Vries BB, Kleefstra T, Eichler EE, Van der Aa N, Kooy RF.
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The transcriptional regulator ADNP links the BAF (. Am J Med Gen. 2014 Aug. Expansion of the clinical phenotype associated wit. J Med Genet. 2014 Jul. Gene were reported in patients with ASD and other shared clinical characteristics, including intellectual disability and facial dysmorphisms. Currently, 24 patients have been reported by Frank Kooy (University of Antwerp), Bert de Vries (Radboud University, Nijmegen), Evan Eichler (University of Washington, Seattle), et al. Are invited to submit. Parents w...
General information
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The transcriptional regulator ADNP links the BAF (. Am J Med Gen. 2014 Aug. Expansion of the clinical phenotype associated wit. J Med Genet. 2014 Jul. Can be identified using molecular genetic testing, either directly by sequencing of the. Gene or by exome/genome sequencing. Most mutations reported so far in patients are. The most frequent clinical features of patients with ADNP mutations are autism and comorbidity with mild to severe ID (consistent). Feeding problems in infancy. Submitted to the database.
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The transcriptional regulator ADNP links the BAF (. Am J Med Gen. 2014 Aug. Expansion of the clinical phenotype associated wit. J Med Genet. 2014 Jul. Here you are able to submit clinical information on children or adults with a ADNP mutation. Please note that only professionals can submit information to the database. For this task a username and password is required. Not an account yet? Please send an email to geert.vandeweyer@uantwerpen.be. Desgined by Easy-Changer.Com.
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The transcriptional regulator ADNP links the BAF (. Am J Med Gen. 2014 Aug. Expansion of the clinical phenotype associated wit. J Med Genet. 2014 Jul. Gene were reported in patients with ASD and other shared clinical characteristics, including intellectual disability and facial dysmorphisms. Currently, 12 patients have been reported. In order to increase knowledge on the consequences of. Clinicians who identify a patient with a mutation in. Are invited to submit. This information to the database.
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