Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration.
Powis, Zöe
Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration. [electronic resource] - BMC medical genetics 06 2017 - 60 p. digital
Publication Type: Case Reports; Journal Article
1471-2350
10.1186/s12881-017-0426-3 doi
Clubfoot--diagnosis
Exome
Fatal Outcome
Heart Defects, Congenital--diagnosis
Humans
Infant
Male
Mutation
Phenotype
Pierre Robin Syndrome--diagnosis
Prognosis
RNA-Binding Proteins--genetics
Sequence Analysis, DNA
Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration. [electronic resource] - BMC medical genetics 06 2017 - 60 p. digital
Publication Type: Case Reports; Journal Article
1471-2350
10.1186/s12881-017-0426-3 doi
Clubfoot--diagnosis
Exome
Fatal Outcome
Heart Defects, Congenital--diagnosis
Humans
Infant
Male
Mutation
Phenotype
Pierre Robin Syndrome--diagnosis
Prognosis
RNA-Binding Proteins--genetics
Sequence Analysis, DNA