peer reviewedDeletions in chromosome 14q22-23 have been associated with variable manifestations including malformations of the eye, limbs, palate, and brain, and with developmental and growth delay. Haploinsufficiency of BMP4, OTX2 and possibly SIX6 are thought to contribute to the phenotype. We present a three generation family with four individuals carrying a 2.79 Mb microdeletion 14q22.1-22.2 encompassing BMP4 but not OTX2 nor SIX6. The highly variable manifestations in this family range from multiple congenital malformations with Robin sequence, microphthalmia, postaxial polydactyly, and developmental delay in the index patient to cleft uvula, growth delay, and mild developmental delay in her sister. The adults have a normal intelligenc...
BACKGROUND:22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in...
A variety of ocular anomalies have been described in the rare ring 14 and 14q terminal deletion synd...
The syndrome “ring of chromosome 14 ” is a rare pathology which reveals itself mainly by mental and ...
Deletions in chromosome 14q22-23 have been associated with variable manifestations including malform...
peer reviewedDeletions in chromosome 14q22-23 have been associated with variable manifestations incl...
Mutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible for a rare genetic s...
Abstract Background Mutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible ...
Severe ocular malformations, including anophthalmia-microphthalmia (AM), are responsible for around ...
Background—Congenital microphthal-mia (OMIM: 309700) may occur in isola-tion or in association with ...
SummaryCongenital microphthalmia (CMIC) (OMIM 309700) may occur in isolation or in association with ...
Developmental ocular malformations, including anophthalmia-microphthalmia (AM), are heterogeneous di...
22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximat...
International audienceBACKGROUND: Microdeletions of 14q22q23 have been associated with eye abnormali...
Developmental ocular malformations, including anophthalmia-microphthalmia (AM), are heterogeneous di...
Abstract Background Interstitial microdeletion 14q22q23 is a rare chromosomal syndrome associated wi...
BACKGROUND:22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in...
A variety of ocular anomalies have been described in the rare ring 14 and 14q terminal deletion synd...
The syndrome “ring of chromosome 14 ” is a rare pathology which reveals itself mainly by mental and ...
Deletions in chromosome 14q22-23 have been associated with variable manifestations including malform...
peer reviewedDeletions in chromosome 14q22-23 have been associated with variable manifestations incl...
Mutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible for a rare genetic s...
Abstract Background Mutations occurring in the orthodenticle homeobox 2 gene (OTX2) are responsible ...
Severe ocular malformations, including anophthalmia-microphthalmia (AM), are responsible for around ...
Background—Congenital microphthal-mia (OMIM: 309700) may occur in isola-tion or in association with ...
SummaryCongenital microphthalmia (CMIC) (OMIM 309700) may occur in isolation or in association with ...
Developmental ocular malformations, including anophthalmia-microphthalmia (AM), are heterogeneous di...
22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in approximat...
International audienceBACKGROUND: Microdeletions of 14q22q23 have been associated with eye abnormali...
Developmental ocular malformations, including anophthalmia-microphthalmia (AM), are heterogeneous di...
Abstract Background Interstitial microdeletion 14q22q23 is a rare chromosomal syndrome associated wi...
BACKGROUND:22q11.2 deletion syndrome (22q11.2DS) is a common microdeletion syndrome, which occurs in...
A variety of ocular anomalies have been described in the rare ring 14 and 14q terminal deletion synd...
The syndrome “ring of chromosome 14 ” is a rare pathology which reveals itself mainly by mental and ...