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Paper Details

Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
Ann Clin Transl Neurol
25
2022
ACADM, ADAT3, ATL1, COL4A1, CP, Cerebral palsy, ECHS1, GNAO1, Hypotonic-ataxic, Mendelian disorder, Mendelian disorders, PDHX, POLR2A, SATB2, SLC16A2, SPAST, SPAST-related disorder, THOC2, ZMYM2, cerebral palsy, childhood motor disability, cryptogenic CP, genetic disorders, non, non-cryptogenic CP, participants, patient, patients, single-gene disorders
Author NameAffiliation
Piotr SlizThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Brian D SnyderBoston Children's Hospital
Catherine A BrownsteinBoston Children's Hospital
Catherine A BrownsteinBoston Children's Hospital
Anne O'Donnell-LuriaThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Anne O'Donnell-LuriaBoston Children's Hospital
Anne O'Donnell-LuriaThe Manton Center for Orphan Disease Research, Boston Children's Hospital
Anne O'Donnell-LuriaBoston Children's Hospital
Mustafa SahinBoston Children's Hospital
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