Disease: Mental retardation microcephaly phalangeal facial
- 2q24-q31 deletion: report of a case and review of the literature
- A 'new' syndrome of mental retardation with characteristic facies and brachyphalangy
- A 10.46 Mb 12p11.1-12.1 interstitial deletion coincident with a 0.19 Mb NRXN1 deletion detected by array CGH in a girl with scoliosis and autism
- Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3
- Coffin-Siris syndrome in a 5-year-old girl
- Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome
- Growth hormone deficiency, aortic dilation, and neurocognitive issues in Feingold syndrome 2
- How many entities exist for the spectrum of disorders associated with brachydactyly, syndactyly, short stature, microcephaly, and intellectual disability?
- How many phenotypes for the FBXO11 related disease? Report on a new patient with a tricho-rhino-phalangeal like phenotype
- Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability
- Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails
- Martsolf syndrome in a brother and sister: clinical features and pattern of inheritance
- Metacarpophalangeal pattern profile analysis for a 3-month-old infant with Feingold syndrome 2
- Multiple exostoses-mental retardation syndrome. A case report and review of the literature
- Nicolaides-Baraitser Syndrome
- Supernumeraries in Nicolaides-Baraitser Syndrome
- The Coffin-Siris syndrome
- The Coffin-Siris syndrome. A new syndrome of mental retardation, hypo-aplasia of the nails and terminal phalanges of the 5th fingers and toes
- The Coffin-Siris syndrome. A report of four cases and review of the literature
- The Hunter-McAlpine syndrome results from duplication 5q35-qter
- The Langer-Giedion syndrome: report of a 22-year old woman
- Three sibs with phalangeal anomalies, microcephaly, severe mental retardation, and neurological abnormalities
- Trichorhinophalangeal syndrome. Apropos of a case
- Triplets with growth failure, microcephaly, mental retardation, nail hypoplasia and corpus callosum agenesis: is it a variant of Coffin-Siris or a new syndrome?
- Two new cases of X-linked intellectual developmental disorder-105 linked to a previously unreported pathogenic variant in the USP27X gene