Lenz microphthalmia is inherited in an X-linked recessive pattern and comprises
microphthalmia, mental retardation, and skeletal and other anomalies. Two loci associated …

Infantile hypertrophic pyloric stenosis (IHPS) is a common condition in neonates that is
characterized by an acquired narrowing of the pylorus. The aetiology of isolated IHPS is still …

Ogden syndrome is a rare lethal X‐linked recessive disorder caused by a recurrent
missense variant (Ser37Pro) in the NAA10 gene, encoding the catalytic subunit of the N …

Recent studies revealed the power of whole-exome sequencing to identify mutations in
sporadic cases with non-syndromic intellectual disability. We now identified de novo …

Introduction Lenz microphthalmia syndrome (LMS) is a genetically heterogeneous X-linked
disorder characterised by microphthalmia/anophthalmia, skeletal abnormalities …

Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a
spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and …

Background A single variant in NAA10 (c. 471+ 2T> A), the gene encoding N-
acetyltransferase 10, has been associated with Lenz microphthalmia syndrome. In this …

Abstract The NAA10-NAA15 complex (NatA) is an N-terminal acetyltransferase that
catalyzes N-terminal acetylation of~ 40% of all human proteins. N-terminal acetylation has …

Abstract Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant condition
with male lethality characterized by microphthalmia, congenital cataracts, facial dysmorphic …

Keeping pace with the changing face of genetics in ophthalmology, this second edition
contains new chapters on molecular genetics, thrombophilia, and genetically triggered …