A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies

[1] Cario H(1999)A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation Clin Genet 55 487-492

[2] Bode H(2000)A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome J Med Genet 37 128-131

[3] Gustavsson P(1997)Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation J Med Genet 34 779-782

[4] Dahl N(1997)Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb Nat Genet 16 368-371

[5] Kohne E(1998)Identification of microdeletions spanning the Diamond-Blackfan anemia (DBA) locus on 19q13 and evidence for genetic heterogeneity Am J Hum Genet 63 1388-1395

[6] Tentler D(1999)The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia Nat Genet 21 169-175

[7] Gustavsson P(2000)Diamond-Blackfan Anaemia: an overview Paediatr Drugs 2 345-355

[8] Elinder G(2000)Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development Mech Dev 92 263-271

[9] Eklöf O(2012)Developmental dynamics of PAFAH1B subunits during mouse brain development J Comp Neurol 520 3877-3894

[10] Gordon L(2009)Miller-Dieker syndrome An Pediatr (Barc) 70 304-306

[1] Cario H(1999)A microdeletion syndrome due to a 3-Mb deletion on 19q13.2--Diamond-Blackfan anemia associated with macrocephaly, hypotonia, and psychomotor retardation Clin Genet 55 487-492

[2] Bode H(2000)A microdeletion in 19q13.2 associated with mental retardation, skeletal malformations, and Diamond-Blackfan anaemia suggests a novel contiguous gene syndrome J Med Genet 37 128-131

[3] Gustavsson P(1997)Diamond-Blackfan anaemia in a girl with a de novo balanced reciprocal X;19 translocation J Med Genet 34 779-782

[4] Dahl N(1997)Diamond-Blackfan anaemia: genetic homogeneity for a gene on chromosome 19q13 restricted to 1.8 Mb Nat Genet 16 368-371

[5] Kohne E(1998)Identification of microdeletions spanning the Diamond-Blackfan anemia (DBA) locus on 19q13 and evidence for genetic heterogeneity Am J Hum Genet 63 1388-1395

[6] Tentler D(1999)The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia Nat Genet 21 169-175

[7] Gustavsson P(2000)Diamond-Blackfan Anaemia: an overview Paediatr Drugs 2 345-355

[8] Elinder G(2000)Lissencephaly associated mutations suggest a requirement for the PAFAH1B heterotrimeric complex in brain development Mech Dev 92 263-271

[9] Eklöf O(2012)Developmental dynamics of PAFAH1B subunits during mouse brain development J Comp Neurol 520 3877-3894

[10] Gordon L(2009)Miller-Dieker syndrome An Pediatr (Barc) 70 304-306