Generation of a mouse model of the neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Human molecular genetics"
DOI: 10.1093/hmg/ddac119
Abstract: Heterozygous variants in BPTF cause the neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL) syndrome (MIM#617755) characterized by intellectual disability (ID), speech delay, and postnatal microcephaly. BPTF functions within NURF, a complex comprising… read more here.
Keywords: neurodevelopmental disorder; dysmorphic facies; facies distal; neddfl syndrome ... See more keywords
Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies syndrome due to disruption of BPTF in a 35‐year‐old man initially diagnosed with Silver‐Russell syndrome
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DOI: 10.1111/cge.13490
Abstract: To the Editor: We present a 35-year-old male with a de novo reciprocal chromosomal translocation (RCT) t(1;17)(q24.3;q24.2) reported in 1993 as the second observation of Silver-Russell syndrome (SRS) (MIM#180860) following the report by Ramírez-Dueñas et… read more here.
Keywords: russell syndrome; silver russell; disorder dysmorphic; year old ... See more keywords
A de Novo ZMIZ1 Pathogenic Variant for Neurodevelopmental Disorder With Dysmorphic Facies and Distal Skeletal Anomalies
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DOI: 10.3389/fgene.2022.840577
Abstract: Background: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies (NEDDFSA) is a rare syndromic disorder characterized by global neurodevelopmental delay, early-onset hypotonia, poor overall growth, poor speech/language ability, and additional common phenotypes such as… read more here.
Keywords: neurodevelopmental disorder; skeletal anomalies; dysmorphic facies; facies distal ... See more keywords